Neutrophil single-cell analysis identifies a type II interferon-related subset for predicting relapse of autoimmune small vessel vasculitis

Nishide M., Nishimura K., Matsushita H., Kawada S., Shimagami H., Metsugi S., Kato Y., Kawasaki T., Tsujimoto K., Edahiro R., Shirai Y., Itotagawa E., Naito M., Yamamoto Y., Matsukawa K., Omiya R., Okada Y., Hattori K., Narazaki M., Kumanogoh A.

Nature Communications　Vol. 16　No. 1　2025/04/24　Research paper (scientific journal)

Asian diversity in human immune cells

Kock KH, Tan LM, Han KY, Ando Y., Jevapatarakul D., Chatterjee A., Lin QXX, Buyamin EV, Sonthalia R., Rajagopalan D., Tomofuji Y., Sankaran S., Park MS, Abe M., Chantaraamporn J., Furukawa S., Ghosh S., Inoue G., Kojima M., Kouno T., Lim J., Myouzen K., Nguantad S., Oh JM, Rayan NA, Sarkar S., Suzuki A., Thungsatianpun N., Venkatesh PN, Moody J., Nakano M., Chen Z., Tian C., Zhang Y., Tong Y., Tan CTY, Tizazu AM, Loh M., Hwang YY, Ho RC, Larbi A., Ng TP, Won HH, Wright FA, Villani AC, Park JE, Choi M., Liu B., Maitra A., Pithukpakorn M., Suktitipat B., Ishigaki K., Okada Y., Yamamoto K., Carninci P., Chambers JC, Hon CC, Matangkasombut P., Charoensawan V., Majumder PP, Shin JW, Park WY, Prabhakar S.

Cell　Vol. 188　No. 8　p. 2288-2306.e24　2025/04　Research paper (scientific journal)

Predicting coronavirus disease 2019 severity using explainable artificial intelligence techniques

Ozawa T., Chubachi S., Namkoong H., Nemoto S., Ikegami R., Asakura T., Tanaka H., Lee H., Fukushima T., Azekawa S., Otake S., Nakagawara K., Watase M., Masaki K., Kamata H., Harada N., Ueda T., Ueda S., Ishiguro T., Arimura K., Saito F., Yoshiyama T., Nakano Y., Muto Y., Suzuki Y., Edahiro R., Murakami K., Sato Y., Okada Y., Koike R., Ishii M., Hasegawa N., Kitagawa Y., Tokunaga K., Kimura A., Miyano S., Ogawa S., Kanai T., Fukunaga K., Imoto S.

Scientific Reports　Vol. 15　No. 1　2025/03/19　Research paper (scientific journal)

Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity

Sonehara K., Uwamino Y., Saiki R., Takeshita M., Namba S., Uno S., Nakanishi T., Nishimura T., Naito T., Sato G., Kanai M., Liu A., Uchida S., Kurafuji T., Tanabe A., Arai T., Ohno A., Shibata A., Tanaka S., Wakui M., Kashimura S., Tomi C., Hara A., Yoshikawa S., Gotanda K., Misawa K., Tanaka H., Azekawa S., Wang QS, Edahiro R., Shirai Y., Yamamoto K., Nagao G., Suzuki T., Kiyoshi M., Ishii-Watabe A., Higashiue S., Kobayashi S., Yamaguchi H., Okazaki Y., Matsumoto N., Masumoto A., Koga H., Kanai A., Japan COVID, Task Force, Biobank Japan, Projec, Oda Y., Suzuki Y., Matsuda K., Kitagawa Y., Koike R., Kimura A., Kumanogoh A., Yoshimura A., Imoto S., Miyano S., Kanai T., Fukunaga K., Hasegawa N., Murata M., Matsushita H., Ogawa S., Okada Y., Namkoong H.

Cell Genomics　p. 100783-100783　2025/03　Research paper (scientific journal)

Coronary Artery Calcification on Chest Computed Tomography as a Predictor of Cardiovascular Adverse Events in Patients With COVID-19 ― A Multicenter Retrospective Study in Japan ―

Watase M., Shiraishi Y., Chubachi S., Tanabe N., Maetani T., Asakura T., Namkoong H., Tanaka H., Shimada T., Azekawa S., Otake S., Fukushima T., Nakagawara K., Masaki K., Terai H., Mochimaru T., Sasaki M., Ueda S., Kato Y., Harada N., Suzuki S., Yoshida S., Tateno H., Yamada Y., Jinzaki M., Okada Y., Koike R., Ishii M., Kimura A., Imoto S., Miyano S., Ogawa S., Kanai T., Fukunaga K.

Circulation Journal　Vol. 89　No. 3　p. 373-381　2025/02/25　Research paper (scientific journal)

Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis

Funaguma S., Iida A., Saito Y., Tanboon J., De Los Reyes FV, Sonehara K., Goto YI, Okada Y., Hayashi S., Nishino I.

Nature Communications　Vol. 16　No. 1　2025/02/07　Research paper (scientific journal)

Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies

Major Depressive Disorder Working, Group of the, Psychiatric Genomics Consortium

Cell　Vol. 188　No. 3　p. 640-652.e9　2025/02　Research paper (scientific journal)

Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

Yata T., Sato G., Ogawa K., Naito T., Sonehara K., Saiki R., Edahiro R., Namba S., Watanabe M., Shirai Y., Yamamoto K., NamKoong H., Nakanishi T., Yamamoto Y., Hosokawa A., Yamamoto M., Japan MS, NMOSD biobank, BioBank Japan Projec, Japan COVID, Task Force, Oguro-Igashira E., Nii T., Maeda Y., Nakajima K., Nishikawa R., Tanaka H., Nakayamada S., Matsuda K., Nishigori C., Sano S., Kinoshita M., Koike R., Kimura A., Imoto S., Miyano S., Fukunaga K., Mihara M., Shimizu Y., Kawachi I., Miyamoto K., Tanaka Y., Kumanogoh A., Niino M., Nakatsuji Y., Ogawa S., Matsushita T., Kira JI, Mochizuki H., Isobe N., Okuno T., Okada Y.

Cell Genomics　p. 100776-100776　2025/02　Research paper (scientific journal)

Erector Spinae Muscle to Epicardial Visceral Fat Ratio on Chest CT Predicts the Severity of Coronavirus Disease 2019

Shimada T., Maetani T., Chubachi S., Tanabe N., Asakura T., Namkoong H., Tanaka H., Azekawa S., Otake S., Nakagawara K., Fukushima T., Watase M., Shiraishi Y., Terai H., Sasaki M., Ueda S., Kato Y., Harada N., Suzuki S., Yoshida S., Tateno H., Shimizu K., Sato S., Yamada Y., Jinzaki M., Hirai T., Okada Y., Koike R., Ishii M., Kimura A., Imoto S., Miyano S., Ogawa S., Kanai T., Fukunaga K.

Journal of Cachexia, Sarcopenia and Muscle　Vol. 16　No. 1　2025/01/27　Research paper (scientific journal)

Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer.

Sasa N., Kishikawa T., Mori M., Ito R., Mizoro Y., Suzuki M., Eguchi H., Tanaka H., Fukusumi T., Suzuki M., Takenaka Y., Nimura K., Okada Y., Inohara H.

Nature communications　Vol. 16　No. 1　p. 1052-1052　2025/01/26　Research paper (scientific journal)

Incomplete human reference genomes can drive false sex biases and expose patient-identifying information in metagenomic data

Guccione C., Patel L., Tomofuji Y., McDonald D., Gonzalez A., Sepich-Poore GD, Sonehara K., Zakeri M., Chen Y., Dilmore AH, Damle N., Baranzini SE, Hightower G., Nakatsuji T., Gallo RL, Langmead B., Okada Y., Curtius K., Knight R.

Nature Communications　Vol. 16　No. 1　2025/01/18　Research paper (scientific journal)

Blood DNA virome associates with autoimmune diseases and COVID-19

Sasa N., Kojima S., Koide R., Hasegawa T., Namkoong H., Hirota T., Watanabe R., Nakamura Y., Oguro-Igashira E., Ogawa K., Yata T., Sonehara K., Yamamoto K., Kishikawa T., Sakaue S., Edahiro R., Shirai Y., Maeda Y., Nii T., Chubachi S., Tanaka H., Yabukami H., Suzuki A., Nakajima K., Arase N., Okamoto T., Nishikawa R., Namba S., Naito T., Miyagawa I., Tanaka H., Ueno M., Ishitsuka Y., Furuta J., Kunimoto K., Kajihara I., Fukushima S., Miyachi H., Matsue H., Kamata M., Momose M., Bito T., Nagai H., Ikeda T., Horikawa T., Adachi A., Matsubara T., Ikumi K., Nishida E., Nakagawa I., Yagita-Sakamaki M., Yoshimura M., Ohshima S., Kinoshita M., Ito S., Arai T., Hirose M., Tanino Y., Nikaido T., Ichiwata T., Ohkouchi S., Hirano T., Takada T., Tazawa R., Morimoto K., Takaki M., Konno S., Suzuki M., Tomii K., Nakagawa A., Handa T., Tanizawa K., Ishii H., Ishida M., Kato T., Takeda N., Yokomura K., Matsui T., Uchida A., Inoue H., Imaizumi K., Goto Y., Kida H., Fujisawa T., Suda T., Yamada T., Satake Y., Ibata H., Saigusa M., Shirai T., Hizawa N., Nakata K., Japan COVID, Task Force, Imafuku S., Tada Y., Asano Y., Sato S., Nishigori C., Jinnin M., Ihn H., Asahina A., Saeki H., Kawamura T., Shimada S., Katayama I., Poisner HM, Mack TM, Bick AG, Higasa K., Okuno T., Mochizuki H., Ishii M., Koike R, K.

Nature Genetics　2025/01/03　Research paper (scientific journal)

Age-related TFEB downregulation in proximal tubules causes systemic metabolic disorders and occasional apolipoprotein A4-related amyloidosis.

Nakamura J., Yamamoto T., Takabatake Y., Namba-Hamano T., Takahashi A., Matsuda J., Minami S., Sakai S., Yonishi H., Maeda S., Matsui S., Kawai H., Matsui I., Yamamuro T., Edahiro R., Takashima S., Takasawa A., Okada Y., Yoshimori T., Ballabio A., Isaka Y.

JCI insight　2024/12/19　Research paper (scientific journal)

Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases.

Tian C., Zhang Y., Tong Y., Kock KH, Sim DY, Liu F., Dong J., Jing Z., Wang W., Gao J., Tan LM, Han KY, Tomofuji Y., Nakano M., Buyamin EV, Sonthalia R., Ando Y., Hatano H., Sonehara K., Asian Immune Diversity Atlas Network, Jin X., Loh M., Chambers J., Hon CC, Choi M., Park JE, Ishigaki K., Okamura T., Fujio K., Okada Y., Park WY, Shin JW, Roca X., Prabhakar S., Liu B.

Nature genetics　2024/12/03　Research paper (scientific journal)

A genome-wide meta-analysis reveals shared and population-specific variants for allergic sensitization.

Noguchi E., Morii W., Kitazawa H., Hirota T., Sonehara K., Masuko H., Okada Y., Hizawa N.

The Journal of allergy and clinical immunology　2024/12/03　Research paper (scientific journal)

Leveraging genome-wide association studies to better understand the etiology of cancers.

Sonehara K., Okada Y.

Cancer science　2024/11/19　Research paper (scientific journal)

Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations.

Yamamoto K., Namba S., Sonehara K., Suzuki K., Sakaue S., Cooke NP, Higashiue S., Kobayashi S., Afuso H., Matsuura K., Mitsumoto Y., Fujita Y., Tokuda T., Biobank Japan, Projec, Matsuda K., Gakuhari T., Yamauchi T., Kadowaki T., Nakagome S., Okada Y.

Nature communications　Vol. 15　No. 1　p. 9780-9780　2024/11/12　Research paper (scientific journal)

Bioactive Mediator Profile of Mepolizumab-Treated Eosinophilic Granulomatosis With Polyangiitis.

Kamide Y., Sonehara K., Sekiya K., Ueki S., Nakamura Y., Okada Y., Taniguchi M.

Allergy　2024/11/11　Research paper (scientific journal)

Combined use of serum ferritin and KL-6 levels as biomarkers for predicting COVID-19 severity.

Tanaka H., Toya E., Chubachi S., Namkoong H., Asakura T., Azekawa S., Otake S., Nakagawara K., Fukushima T., Watase M., Sakurai K., Masaki K., Kamata H., Ishii M., Hasegawa N., Okada Y., Koike R., Kitagawa Y., Kimura A., Imoto S., Miyano S., Ogawa S., Kanai T., Fukunaga K.

Respiratory investigation　Vol. 62　No. 6　p. 1132-1136　2024/11　Research paper (scientific journal)

A genome-wide association analysis reveals new pathogenic pathways in gout.

Major TJ, Takei R., Matsuo H., Leask MP, Sumpter NA, Topless RK, Shirai Y., Wang W., Cadzow MJ, Phipps-Green AJ, Li Z., Ji A., Merriman ME, Morice E., Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T., Golovina E., O'Sullivan JM, Stamp LK, Dalbeth N., Abhishek A., Doherty M., Roddy E., Jacobsson LTH, Kapetanovic MC, Melander O., Andrés M., Pérez-Ruiz F., Torres RJ, Radstake T., Jansen TL, Janssen M., Joosten LAB, Liu R., Gaal OI, Crişan TO, Rednic S., Kurreeman F., Huizinga TWJ, Toes R., Lioté F., Richette P., Bardin T., Ea HK, Pascart T., McCarthy GM, Helbert L., Stibůrková B., Tausche AK, Uhlig T., Vitart V., Boutin TS, Hayward C., Riches PL, Ralston SH, Campbell A., MacDonald TM, FAST Study Group, Nakayama A., Takada T., Nakatochi M., Shimizu S., Kawamura Y., Toyoda Y., Nakaoka H., Yamamoto K., Matsuo K., Shinomiya N., Ichida K., Japan Gou, Genomics Consortium, Lee C., Asia Pacific Gou, Consortium, Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S., Smith MD, Rischmueller M., Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J., Giacomini KM, Brackman DJ, Jorgenson EM, GlobalGout Genetics Consortium, Liu H., Susztak K., ndMe Research Team, Shringarpure S., So A., Okada Y., Li C., Shi T., Merriman TR

Nature genetics　2024/10/15　Research paper (scientific journal)

Inconsistent embryo selection across polygenic score methods.

Namba S., Akiyama M., Hamanoue H., Kato K., Kawashima M., Kushima I., Matsuda K., Nakatochi M., Ogishima S., Sonehara K., Suzuki K., Takata A., Tamiya G., Tanikawa C., Yamamoto K., Yamamoto N., BioBank Japan Projec, Ozaki N., Okada Y.

Nature human behaviour　2024/10/14　Research paper (scientific journal)

Genome-wide association studies for pelvic organ prolapse in the Japanese population

Matsunami M., Imamura M., Ashikari A., Liu X., Tomizuka K., Hikino K., Miwa K., Kadekawa K., Suda T., Koretsune Y., Koga Y., Masumoto A., Higashiyama M., Obata D., Miki Y., Yoshimori K., Murayama S., Iwasaki Y.-K., Nito C., Wakita S., Nagata Y., Yamaguchi H., Kobayashi S., Higashiue S., Takahashi Y., Asai S., Takahash K., Yamaji K., Obara W., Nakamura Y., Murakami Y., Yamanashi Y., Furukawa Y., Kumasaka N., Sagiya Y., Nagai A., Muto K., Kamatani Y., Okada Y., Morisaki T., Matsuda K., Miyazato M., Terao C., Maeda S.

Communications Biology　Vol. 7　No. 1　2024/09/30　Research paper (scientific journal)

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

Wang QS, Hasegawa T, Namkoong H, Saiki R, Edahiro R, Sonehara K, Tanaka H, Azekawa S, Chubachi S, Takahashi Y, Sakaue S, Namba S, Yamamoto K, Shiraishi Y, Chiba K, Tanaka H, Makishima H, Nannya Y, Zhang Z, Tsujikawa R, Koike R, Takano T, Ishii M, Kimura A, Inoue F, Kanai T, Fukunaga K, Ogawa S, Imoto S, Miyano S, Okada Y, Japan COVID, Task Force

Nature Genetics　2024/09/24　Research paper (scientific journal)

Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins

Yamamoto K, Lee Y, Masuda T, Ozono K, Iwatani Y, Watanabe M, Okada Y, Sakai N

DNA Research　2024/09/22　Research paper (scientific journal)

Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores

Naito T, Inoue K, Namba S, Sonehara K, Suzuki K, BioBank Japan, Matsuda K, Kondo N, Toda T, Yamauchi T, Kadowaki T, Okada Y

Communications Medicine　Vol. 4　No. 1　2024/09/20　Research paper (scientific journal)

Clonal landscape of autoantibody-secreting plasmablasts in COVID-19 patients

Sakakibara S., Liu Y.-C., Ishikawa M., Edahiro R., Shirai Y., Haruna S., El Hussien M.A., Xu Z., Li S., Yamaguchi Y., Murakami T., Morita T., Kato Y., Hirata H., Takeda Y., Sugihara F., Naito Y., Motooka D., Tsai C.-Y., Ono C., Matsuura Y., Wing J.B., Matsumoto H., Ogura H., Okada M., Kumanogoh A., Okada Y., Standley D.M., Kikutani H., Okuzaki D.

Life Science Alliance　Vol. 7　No. 12　p. e202402774-e202402774　2024/09/17　Research paper (scientific journal)

Spinal cord motor neuron phenotypes and polygenic risk scores in sporadic amyotrophic lateral sclerosis: deciphering the disease pathology and therapeutic potential of ropinirole hydrochloride

Kato C, Morimoto S, Takahashi S, Namba S, Wang QS, Okada Y, Okano H

J Neurol Neurosurg Psychiatry　p. jnnp-2024　2024/09/04　Research paper (scientific journal)

Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases

Yamamoto Y, Shirai Y, Edahiro R, Kumanogoh A, Okada Y

Immunol Med　Vol. 22　p. 1-10　2024/08/22　Research paper (scientific journal)

The Rubicon-WIPI axis regulates exosome biogenesis during aging

Yanagawa K, Kuma A, Hamasaki M, Kita S, Yamamuro T, Nishino K, Nakamura S, Omori H, Kaminishi T, Oikawa S, Kato Y, Edahiro R, Kawagoe R, Taniguchi T, Tanaka Y, Shima T, Tabata K, Iwatani M, Bekku N, Hanayama R, Okada Y, Akimoto T, Kosako H, Takahashi A, Shimomura I, Sakata Y, Yoshimori T

2024/08/22　Research paper (scientific journal)

Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome‐Wide Association and Mendelian Randomization Study

Inoue K, Naito T, Fuji R, Sonehara K, Yamamoto K, Baba R, Kodama T, Otagaki Y, Okada A, Itcho K, Kobuke K, Ohno H, BioBank Japan, Morisaki T, Hattori N, Goto A, Nishikawa T, Oki K, Okada Y

Journal of the American Heart Association　Vol. 13　No. 15　2024/08/06　Research paper (scientific journal)

Curating Genetic Associations With Rheumatologic Autoimmune Diseases to Improve Patient Outcomes

S. Louis Bridges, Rachel Shapira, Ivona Aksentijevich, Steven J. Mack, Tony R. Merriman, Clarissa J. Klein, B. Monica Bowen, Teri E. Klein

Arthritis & Rheumatology　Vol. 76　No. 11　p. 1577-1581　2024/08　Research paper (scientific journal)

Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults

Pozarickij A, Gan W, Lin K, Clarke R, Fairhurst-Hunter Z, Koido M, Kanai M, Okada Y, Kamatani Y, Bennett D, Du H, Chen Y, Yang L, Avery D, Guo Y, Yu M, Yu C, Schmidt Valle D, Lv J, Chen J, Peto R, Collins R, Li L, Chen Z, Millwood IY, Walters RG, China Kadoorie Biobank Collaborative Group

Nature Communications　Vol. 15　No. 1　2024/07/24　Research paper (scientific journal)

Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss

Sonehara K, Yano Y, Naito T, Goto S, Yoshihara H, Otani T, Ozawa F, Kitaori T, Biobank Japan Projec, Matsuda K, Nishiyama T, Okada Y, Sugiura-Ogasawara M

Nature Communications　Vol. 15　No. 1　2024/07/17　Research paper (scientific journal)

Genome-wide association study on meningioma risk in Japan: a multicenter prospective study.

Yamada S, Umehara T, Sonehara K, Kijima N, Kawabata S, Takano K, Kidani T, Hirayama R, Arita H, Okita Y, Kinoshita M, Kagawa N, Fujinaka T, Fujita T, Wakayama A, Biobank Japan Projec, Matsuda K, Okada Y, Kishima H

Journal of neuro-oncology　2024/07/13　Research paper (scientific journal)

Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease

Debette S, Caro I, Western D, Namba S, Sun N, Kawaguchi S, He Y, Fujita M, Roshchupkin G, D'Aoust T, Duperron MG, Sargurupremraj M, Tsuchida A, Koido M, Ahmadi M, Yang C, Timsina J, Ibanez L, Matsuda K, Suzuki Y, Oda Y, Kanai A, Jandaghi P, Munter HM, Auld D, Astafeva I, Puerta R, Rotter J, Psaty B, Bis J, Longstreth W, Couffinhal T, Garcia-Gonzalez P, Pytel V, Marquié M, Cano A, Boada M, Joliot M, Lathrop M, Le Grand Q, Launer L, Wardlaw J, Heiman M, Ruiz A, Matthews P, Seshadri S, Fornage M, Adams H, Mishra A, Trégouët DA, Okada Y, Kellis M, De Jager P, Tzourio C, Kamatani Y, Matsuda F, Cruchaga C

2024/07/02　Research paper (scientific journal)

CT-derived vertebral bone mineral density is a useful biomarker to predict COVID-19 outcome

Azekawa S., Maetani T., Chubachi S., Asakura T., Tanabe N., Shiraishi Y., Namkoong H., Tanaka H., Shimada T., Fukushima T., Otake S., Nakagawara K., Watase M., Terai H., Sasaki M., Ueda S., Kato Y., Harada N., Suzuki S., Yoshida S., Tateno H., Yamada Y., Jinzaki M., Hirai T., Okada Y., Koike R., Ishii M., Kimura A., Imoto S., Miyano S., Ogawa S., Kanai T., Fukunaga K.

Bone　Vol. 184　p. 117095-117095　2024/07　Research paper (scientific journal)

Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals

Akiyama M, Tamiya G, Fujiwara K, Shiga Y, Yokoyama Y, Hashimoto K, Sato M, Sato K, Narita A, Hashimoto S, Ueda E, Furuta Y, Hata J, Miyake M, Ikeda HO, Suda K, Numa S, Mori Y, Morino K, Murakami Y, Shimokawa S, Nakamura S, Yawata N, Fujisawa K, Yamana S, Mori K, Ikeda Y, Miyata K, Mori K, Ogino K, Koyanagi Y, Kamatani Y, Biobank Japan Projec, Ninomiya T, Sonoda KH, Nakazawa T, Japan Glaucoma, Society, Omics Group, Genomic Research Committee of, he, Japanese Ophthalmological Society

Ophthalmology　2024/07　Research paper (scientific journal)

Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues

Tomofuji Y, Edahiro R, Sonehara K, Shirai Y, Kock KH, Wang QS, Namba S, Moody J, Ando Y, Suzuki A, Yata T, Ogawa K, Naito T, Namkoong H, Xuan Lin QX, Buyamin EV, Tan LM, Sonthalia R, Han KY, Tanaka H, Lee H, Asian Immune Diversity Atlas Network, Japan COVID, Task Force, The BioBank, Japan Projec, Okuno T, Liu B, Matsuda K, Fukunaga K, Mochizuki H, Park WY, Yamamoto K, Hon CC, Shin JW, Prabhakar S, Kumanogoh A, Okada Y

Cell Genomics　p. 100625-100625　2024/07　Research paper (scientific journal)

A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

Jermy B., Läll K., Wolford BN, Wang Y., Zguro K., Cheng Y., Kanai M., Kanoni S., Yang Z., Hartonen T., Monti R., Wanner J., Youssef O., Estonian Biobank, research team, FinnGen, Lippert C., van Heel D., Okada Y., McCartney DL, Hayward C., Marioni RE, Furini S., Renieri A., Martin AR, Neale BM, Hveem K., Mägi R., Palotie A., Heyne H., Mars N., Ganna A., Ripatti S.

Nature Communications　Vol. 15　No. 1　2024/06/12　Research paper (scientific journal)

Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses

Ojima T, Namba S, Suzuki K, Yamamoto K, Sonehara K, Narita A, Tohoku Medical Megabank Projec, Study Group, Biobank Japan Projec, Kamatani Y, Tamiya G, Yamamoto M, Yamauchi T, Kadowaki T, Okada Y

Nature Genetics　Vol. 56　No. 6　p. 1100-1110　2024/06/11　Research paper (scientific journal)

MondoA and AKI and AKI-to-CKD Transition.

Maeda S, Sakai S, Takabatake Y, Yamamoto T, Minami S, Nakamura J, Namba-Hamano T, Takahashi A, Matsuda J, Yonishi H, Matsui S, Imai A, Edahiro R, Yamamoto-Imoto H, Matsui I, Takashima S, Imamura R, Nonomura N, Yanagita M, Okada Y, Ballabio A, Nakamura S, Yoshimori T, Isaka Y

Journal of the American Society of Nephrology : JASN　2024/05/31　Research paper (scientific journal)

Prognostic significance of chronic kidney disease and impaired renal function in Japanese patients with COVID-19.

Hiromu Tanaka, Shotaro Chubachi, Takanori Asakura, Ho Namkoong, Shuhei Azekawa, Shiro Otake, Kensuke Nakagawara, Takahiro Fukushima, Ho Lee, Mayuko Watase, Kaori Sakurai, Tatsuya Kusumoto, Katsunori Masaki, Hirofumi Kamata, Makoto Ishii, Naoki Hasegawa, Yukinori Okada, Ryuji Koike, Yuko Kitagawa, Akinori Kimura, Seiya Imoto, Satoru Miyano, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga

BMC infectious diseases　Vol. 24　No. 1　p. 527-527　2024/05/25　Research paper (scientific journal)

Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci

Ishikawa T., Masuda T., Hachiya T., Dina C., Simonet F., Nagata Y., Tanck MWT, Sonehara K., Glinge C., Tadros R., Khongphatthanayothin A., Lu TP, Higuchi C., Nakajima T., Hayashi K., Aizawa Y., Nakano Y., Nogami A., Morita H., Ohno S., Aiba T., Juárez CK, Mauleekoonphairoj J., Poovorawan Y., Gourraud JB, Shimizu W., Probst V., Horie M., Wilde AAM, Redon R., Juang JJ, Nademanee K., Bezzina CR, Barc J., Tanaka T., Okada Y., Schott JJ, Makita N.

European Heart Journal　2024/05/15　Research paper (scientific journal)

Functional dissection of complex and molecular trait variants at single nucleotide resolution

Siraj L, Castro RI, Dewey H, Kales S, Nguyen TTL, Kanai M, Berenzy D, Mouri K, Wang QS, McCaw ZR, Gosai SJ, Aguet F, Cui R, Vockley CM, Lareau CA, Okada Y, Gusev A, Jones TR, Lander ES, Sabeti PC, Finucane HK, Reilly SK, Ulirsch JC, Tewhey R

2024/05/06　Research paper (scientific journal)

Lung volume measurement using chest CT in COVID-19 patients: a cohort study in Japan

Otake S., Shiraishi Y., Chubachi S., Tanabe N., Maetani T., Asakura T., Namkoong H., Shimada T., Azekawa S., Nakagawara K., Tanaka H., Fukushima T., Watase M., Terai H., Sasaki M., Ueda S., Kato Y., Harada N., Suzuki S., Yoshida S., Tateno H., Yamada Y., Jinzaki M., Hirai T., Okada Y., Koike R., Ishii M., Hasegawa N., Kimura A., Imoto S., Miyano S., Ogawa S., Kanai T., Fukunaga K.

BMJ Open Respiratory Research　Vol. 11　No. 1　p. e002234-e002234　2024/04/24　Research paper (scientific journal)

Poor accuracy and sustainability of the first‐step FIB4 EASL pathway for stratifying steatotic liver disease risk in the general population

De Vincentis A., Tavaglione F., Namba S., Kanai M., Okada Y., Kamatani Y., Maurotti S., Pedone C., Antonelli Incalzi R., Valenti L., Romeo S., Vespasiani-Gentilucci U.

Alimentary Pharmacology & Therapeutics　Vol. 59　No. 11　p. 1402-1412　2024/03/18　Research paper (scientific journal)

【遺伝統計学の新潮流-新規創薬・個別化医療への挑戦】遺伝統計学とシングルセル解析 新型コロナウイルス感染症におけるシングルセル解析

枝廣 龍哉, 熊ノ郷 淳, 岡田 随象

医学のあゆみ　Vol. 288　No. 13　p. 1206-1212　2024/03

Integrated assessment of computed tomography density in pectoralis and erector spinae muscles as a prognostic biomarker for coronavirus disease 2019

Nakagawara K, Shiraishi Y, Chubachi S, Tanabe N, Maetani T, Asakura T, Namkoong H, Tanaka H, Shimada T, Azekawa S, Otake S, Fukushima T, Watase M, Terai H, Sasaki M, Ueda S, Kato Y, Harada N, Suzuki S, Yoshida S, Tateno H, Yamada Y, Jinzaki M, Hirai T, Okada Y, Koike R, Ishii M, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K

Clinical Nutrition　Vol. 43　No. 3　p. 815-824　2024/03　Research paper (scientific journal)

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Thangam M, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franco OH, Frayling TM, Freedman BI, Genter P, Gerstein HC, Giedraitis V, González-Villalpando C, González-Villalpando ME, Gordon-Larsen P, Gross M, Guare LA, Hackinger S, Hakaste L, Han S, Hattersley AT, Herder C, Horikoshi M, Howard AG, Hsueh W, Huang M, Huang W, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Ikram MA, Ingelsson M, Islam MT, Isono M, Jang HM, Jasmine F, Jiang G, Jonas JB, Jørgensen T, Kamanu FK, Kandeel FR, Kasturiratne A, Katsuya T, Kaur V, Kawaguchi T, Keaton JM, Kho AN, Khor CC, Kibriya MG, Kim DH, Kronenberg F, Kuusisto J, Läll K, Lange LA, Lee KM, Lee MS, Lee NR, Leong A, Li L, Li Y, Li-Gao R, Ligthart S, Lindgren CM, Linneberg A, Liu CT, Liu J, Locke AE, Louie T, Luan J, Luk AO, Luo X, Lv J, Lynch JA, Lyssenko V, Maeda S, Mamakou V, Mansuri SR, Matsuda K, Meitinger T, Melander O, Metspalu A, Mo H, Morris AD, Moura FA, Nadler JL, Nalls MA, Nayak U, Ntalla I, Okada Y, Orozco L, Patel SR, Patil S, Pei P, Pereira MA, Peters A, Pirie FJ, Polikowsky HG, Porneala B, Prasad G, Rasmussen-Torvik LJ, Reiner AP, Roden M, Rohde R, Roll K, Sabanayagam C, Sandow K, Sankareswaran A, Sattar N, Schönherr S, Shahriar M, Shen B, Shi J, Shin DM, Shojima N, Smith JA, So WY, Stančáková A, Steinthorsdottir V, Stilp AM, Strauch K, Taylor KD, Thorand B, Thorsteinsdottir U, Tomlinson B, Tran TC, Tsai FJ, Tuomilehto J, Tusie-Luna T, Udler MS, Valladares-Salgado A, van Dam RM, van Klinken JB, Varma R, Wacher-Rodarte N, Wheeler E, Wickremasinghe AR, van Dijk KW, Witte DR, Yajnik CS, Yamamoto K, Yamamoto K, Yoon K, Yu C, Yuan JM, Yusuf S, Zawistowski M, Zhang L, Zheng W, Raffel LJ, Igase M, Ipp E, Redline S, Cho YS, Lind L, Province MA, Fornage M, Hanis CL, Ingelsson E, Zonderman AB, Psaty BM, Wang YX, Rotimi CN, Becker DM, Matsuda F, Liu Y, Yokota M, Kardia SLR, Peyser PA, Pankow JS, Engert JC, Bonnefond A, Froguel P, Wilson JG, Sheu WHH, Wu JY, Hayes MG, Ma RCW, Wong TY, Mook-Kanamori DO, Tuomi T, Chandak GR, Collins FS, Bharadwaj D, Paré G, Sale MM, Ahsan H, Motala AA, Shu XO, Park KS, Jukema JW, Cruz M, Chen YI, Rich SS, McKean-Cowdin R, Grallert H, Cheng CY, Ghanbari M, Tai ES, Dupuis J, Kato N, Laakso M, Köttgen A, Koh WP, Bowden DW, Palmer CNA, Kooner JS, Kooperberg C, Liu S, North KE, Saleheen D, Hansen T, Pedersen O, Wareham NJ, Lee J, Kim BJ, Millwood IY, Walters RG, Stefansson K, Ahlqvist E, Goodarzi MO, Mohlke KL, Langenberg C, Haiman CA, Loos RJF, Florez JC, Rader DJ, Ritchie MD, Zöllner S, Mägi R, Marston NA, Ruff CT, van Heel DA, Finer S, Denny JC, Yamauchi T, Kadowaki T, Chambers JC, Ng MCY, Sim X, Below JE, Tsao PS, Chang KM, McCarthy MI, Meigs JB, Mahajan A, Spracklen CN, Mercader JM, Boehnke M, Rotter JI, Vujkovic M, Voight BF, Morris AP, Zeggini E

Nature　2024/02/19　Research paper (scientific journal)

Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

Lo Faro V, Bhattacharya A, Zhou W, Zhou D, Wang Y, Läll K, Kanai M, Lopera-Maya E, Straub P, Pawar P, Tao R, Zhong X, Namba S, Global Biobank Meta-analysis Initiative, Sanna S, Nolte IM, Okada Y, Ingold N, MacGregor S, Snieder H, Surakka I, Shortt J, Gignoux C, Rafaels N, Crooks K, Verma A, Verma SS, Guare L, Rader DJ, Willer C, Martin AR, Brantley MA Jr, Gamazon ER, Jansonius NM, Joos K, Cox NJ, Hirbo J

Cell Reports Medicine　Vol. 5　No. 2　p. 101430-101430　2024/02　Research paper (scientific journal)

How can genetics analysis allow for early detection of rheumatoid arthritis

Yamamoto K, Ishigaki K, Okada Y

Seminars in Arthritis and Rheumatism　Vol. 64　p. 152323-152323　2024/02　Research paper (scientific journal)

Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping

Tanaka H., Okada Y., Nakayamada S., Miyazaki Y., Sonehara K., Namba S., Honda S., Shirai Y., Yamamoto K., Kubo S., Ikari K., Harigai M., Sonomoto K., Tanaka Y.

Annals of the Rheumatic Diseases　Vol. 83　No. 2　p. 242-252　2024/02　Research paper (scientific journal)

GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

Ishikawa Y, Tanaka N, Asano Y, Kodera M, Shirai Y, Akahoshi M, Hasegawa M, Matsushita T, Saito K, Motegi SI, Yoshifuji H, Yoshizaki A, Kohmoto T, Takagi K, Oka A, Kanda M, Tanaka Y, Ito Y, Nakano K, Kasamatsu H, Utsunomiya A, Sekiguchi A, Niiro H, Jinnin M, Makino K, Makino T, Ihn H, Yamamoto M, Suzuki C, Takahashi H, Nishida E, Morita A, Yamamoto T, Fujimoto M, Kondo Y, Goto D, Sumida T, Ayuzawa N, Yanagida H, Horita T, Atsumi T, Endo H, Shima Y, Kumanogoh A, Hirata J, Otomo N, Suetsugu H, Koike Y, Tomizuka K, Yoshino S, Liu X, Ito S, Hikino K, Suzuki A, Momozawa Y, Ikegawa S, Tanaka Y, Ishikawa O, Takehara K, Torii T, Sato S, Okada Y, Mimori T, Matsuda F, Matsuda K, Amariuta T, Imoto I, Matsuo K, Kuwana M, Kawaguchi Y, Ohmura K, Terao C

Nature Communications　Vol. 15　No. 1　2024/01/31　Research paper (scientific journal)

Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

Sterenborg RBTM, Steinbrenner I, Li Y, Bujnis MN, Naito T, Marouli E, Galesloot TE, Babajide O, Andreasen L, Astrup A, Åsvold BO, Bandinelli S, Beekman M, Beilby JP, Bork-Jensen J, Boutin T, Brody JA, Brown SJ, Brumpton B, Campbell PJ, Cappola AR, Ceresini G, Chaker L, Chasman DI, Concas MP, Coutinho de, Almeida R, Cross SM, Cucca F, Deary IJ, Kjaergaard AD, Echouffo Tcheugui JB, Ellervik C, Eriksson JG, Ferrucci L, Freudenberg J, GHS DiscovEHR, Regeneron Genetics Center, Fuchsberger C, Gieger C, Giulianini F, Gögele M, Graham SE, Grarup N, Gunjača I, Hansen T, Harding BN, Harris SE, Haunsø S, Hayward C, Hui J, Ittermann T, Jukema JW, Kajantie E, Kanters JK, Kårhus LL, Kiemeney LALM, Kloppenburg M, Kühnel B, Lahti J, Langenberg C, Lapauw B, Leese G, Li S, Liewald DCM, Linneberg A, Lominchar JVT, Luan J, Martin NG, Matana A, Meima ME, Meitinger T, Meulenbelt I, Mitchell BD, Møllehave LT, Mora S, Naitza S, Nauck M, Netea-Maier RT, Noordam R, Nursyifa C, Okada Y, Onano S, Papadopoulou A, Palmer CNA, Pattaro C, Pedersen O, Peters A, Pietzner M, Polašek O, Pramstaller PP, Psaty BM, Punda A, Ray D, Redmond P, Richards JB, Ridker PM, Russ TC, Ryan KA, Olesen MS, Schultheiss UT, Selvin E, Siddiqui MK, Sidore C, Slagboom PE, Sorensen TIA, Soto-Pedre E, Spector TD, Spedicati B, Srinivasan S, Starr JM, Stott DJ, Tanaka T, Torlak V, Trompet S, Tuhkanen J, Uitterlinden AG, van den Akker EB, van den Eynde T, van der Klauw MM, van Heemst D, Verroken C, Visser WE, Vojinovic D, Volzke H, Waldenberger M, Walsh JP, J Wareham N, Weiss S, Willer CJ, Wilson SG, Wolffenbuttel BHR, Wouters HJCM, Wright MJ, Yang Q, Zemunik T, Zhou W, Zhu G, Zollner S, Smit JWA, Peeters RP, Kottgen A, Teumer A, Medici M

Nature Communications　Vol. 15　No. 1　2024/01/30　Research paper (scientific journal)

Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people

Koyanagi YN, Nakatochi M., Namba S., Oze I., Charvat H., Narita A., Kawaguchi T., Ikezaki H., Hishida A., Hara M., Takezaki T., Koyama T., Nakamura Y., Suzuki S., Katsuura-Kamano S., Kuriki K., Nakamura Y., Takeuchi K., Hozawa A., Kinoshita K., Sutoh Y., Tanno K., Shimizu A., Ito H., Kasugai Y., Kawakatsu Y., Taniyama Y., Tajika M., Shimizu Y., Suzuki E., Hosono Y., Imoto I., Tabara Y., Takahashi M., Setoh K., BioBank Japan Projec, Matsuda K., Nakano S., Goto A., Katagiri R., Yamaji T., Sawada N., Tsugane S., Wakai K., Yamamoto M., Sasaki M., Matsuda F., Okada Y., Iwasaki M., Brennan P., Matsuo K.

Science Advances　Vol. 10　No. 4　2024/01/26　Research paper (scientific journal)

Gastrointestinal symptoms in COVID-19 and disease severity: a Japanese registry-based retrospective cohort study

Matsubara Y, Kiyohara H, Mikami Y, Nanki K, Namkoong H, Chubachi S, Tanaka H, Azekawa S, Sugimoto S, Yoshimatsu Y, Sujino T, Takabayashi K, Hosoe N, Sato T, Ishii M, Hasegawa N, Okada Y Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Fukunaga K, Kanai T, Japan COVID, Task Force

Journal of Gastroenterology　Vol. 59　p. 195-208　2024/01/25　Research paper (scientific journal)

X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

Scholz M, Horn K, Pott J, Wuttke M, Kühnapfel A, Nasr MK, Kirsten H, Li Y, Hoppmann A, Gorski M, Ghasemi S, Li M, Tin A, Chai JF, Cocca M, Wang J, Nutile T, Akiyama M, Åsvold BO, Bansal N, Biggs ML, Boutin T, Brenner H, Brumpton B, Burkhardt R, Cai J, Campbell A, Campbell H, Chalmers J, Chasman DI, Chee ML, Chee ML, Chen X, Cheng CY, Cifkova R, Daviglus M, Delgado G, Dittrich K, Edwards TL, Endlich K, Michael Gaziano J, Giri A, Giulianini F, Gordon SD, Gudbjartsson DF, Hallan S, Hamet P, Hartman CA, Hayward C, Heid IM, Hellwege JN, Holleczek B, Holm H, Hutri-Kähönen N, Hveem K, Isermann B, Jonas JB, Joshi PK, Kamatani Y, Kanai M, Kastarinen M, Khor CC, Kiess W, Kleber ME, Körner A, Kovacs P, Krajcoviechova A, Kramer H, Krämer BK, Kuokkanen M, Kähönen M, Lange LA, Lash JP, Lehtimäki T, Li H, Lin BM, Liu J, Loeffler M, Lyytikäinen LP, Magnusson PKE, Martin NG, Matsuda K, Milaneschi Y, Mishra PP, Mononen N, Montgomery GW, Mook-Kanamori DO, Mychaleckyj JC, März W, Nauck M, Nikus K, Nolte IM, Noordam R, Okada Y, Olafsson I, Oldehinkel AJ, Penninx BWJH, Perola M, Pirastu N, Polasek O, Porteous DJ, Poulain T, Psaty BM, Rabelink TJ, Raffield LM, Raitakari OT, Rasheed H, Reilly DF, Rice KM, Richmond A, Ridker PM, Rotter JI, Rudan I, Sabanayagam C, Salomaa V, Schneiderman N, Schottker B, Sims M, Snieder H, Stark KJ, Stefansson K, Stocker H, Stumvoll M, Sulem P, Sveinbjornsson G, Svensson PO, Tai ES, Taylor KD, Tayo BO, Teren A, Tham YC, Thiery J, Thio CHL, Thomas LF, Tremblay J, Tonjes A, van der Most PJ, Vitart V, Volker U, Wang YX, Wang C, Wei WB, Whitfield JB, Wild SH, Wilson JF, Winkler TW, Wong TY, Woodward M, Sim X, Chu AY, Feitosa MF, Thorsteinsdottir U, Hung AM, Teumer A, Franceschini N, Parsa A, Kottgen A, Schlosser P

Nature Communications　Vol. 15　No. 1　2024/01/18　Research paper (scientific journal)

Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology

Naito T, Okada Y

Journal of Human Genetics　2024/01/15　Research paper (scientific journal)

Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference

Meng X, Navoly G, Giannakopoulou O, Levey DF, Koller D, Pathak GA, Koen N, Lin K, Adams MJ, Rentería ME, Feng Y, Gaziano JM, Stein DJ, Zar HJ, Campbell ML, van Heel DA, Trivedi B, Finer S, McQuillin A, Bass N, Chundru VK, Martin HC, Huang QQ, Valkovskaya M, Chu CY, Kanjira S, Kuo PH, Chen HC, Tsai SJ, Liu YL, Kendler KS, Peterson RE, Cai N, Fang Y, Sen S, Scott LJ, Burmeister M, Loos RJF, Preuss MH, Actkins KV, Davis LK, Uddin M, Wani AH, Wildman DE, Aiello AE, Ursano RJ, Kessler RC, Kanai M, Okada Y, Sakaue S, Rabinowitz JA, Maher BS, Uhl G, Eaton W, Cruz-Fuentes CS, Martinez-Levy GA, Campos AI, Millwood IY, Chen Z, Li L, Wassertheil-Smoller S, Jiang Y, Tian C, Martin NG, Mitchell BL, Byrne EM, Awasthi S, Coleman JRI, Ripke S, PGC-MDD Working Group, China Kadoorie, Biobank Collaborative Group, andMe Research Team, Genes, Health Research Team, BioBank Japan, Projec, Sofer T, Walters RG, McIntosh AM, Polimanti R, Dunn EC, Stein MB, Gelernter J, Lewis CM, Kuchenbaecker K

Nature Genetics　Vol. 56　No. 2　p. 222-233　2024/01/04　Research paper (scientific journal)

HKDC1, a target of TFEB, is essential to maintain both mitochondrial and lysosomal homeostasis, preventing cellular senescence

Cui M, Yamano K, Yamamoto K, Yamamoto-Imoto H, Minami S, Yamamoto T, Matsui S, Kaminishi T, Shima T, Ogura M, Tsuchiya M, Nishino K, Layden BT, Kato H, Ogawa H, Oki S, Okada Y, Isaka Y, Kosako H, Matsuda N, Yoshimori T, Nakamura S

Proceedings of the National Academy of Sciences　Vol. 121　No. 2　2024/01/03　Research paper (scientific journal)

Epicardial adipose tissue measured from analysis of adipose tissue area using chest CT imaging is the best potential predictor of COVID-19 severity

Fukushima T., Maetani T., Chubachi S., Tanabe N., Asakura T., Namkoong H., Tanaka H., Shimada T., Azekawa S., Otake S., Nakagawara K., Watase M., Shiraishi Y., Terai H., Sasaki M., Ueda S., Kato Y., Harada N., Suzuki S., Yoshida S., Tateno H., Yamada Y., Jinzaki M., Hirai T., Okada Y., Koike R., Ishii M., Kimura A., Imoto S., Miyano S., Ogawa S., Kanai T., Fukunaga K.

Metabolism　Vol. 150　p. 155715-155715　2024/01　Research paper (scientific journal)

Characteristics of patients with COVID-19 who have deteriorating chest X-ray findings within 48 h: a retrospective cohort study

Kusumoto T, Chubachi S, Namkoong H, Tanaka H, Lee H, Otake S, Nakagawara K, Fukushima T, Morita A, Watase M, Asakura T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Murakami K, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K

Scientific Reports　Vol. 13　No. 1　2023/12/12　Research paper (scientific journal)

Inferring compound heterozygosity from large-scale exome sequencing data

Guo M.H, Francioli L.C, Stenton S.L, Goodrich J.K, Watts N.A, Singer-Berk M, Groopman E, Darnowsky P.W, Solomonson M, Baxter S, Abreu M, Salinas C.A.A, Ahmad T, Albert C.M, Alföldi J, Ardissino D, Armean I.M, Atzmon G, Banks E, Barnard J, Baxter S.M, Beaugerie L, Benjamin E.J, Benjamin D, Bergelson L, Boehnke M, Bonnycastle L.L, Bottinger E.P, Bowden D.W, Bown M.J, Brant S, Calvo S.E, Campos H, Chambers J.C, Chan J.C, Chao K.R, Chapman S, Chasman D, Chen S, Chisholm R.L, Cho J, Chowdhury R, Chung M.K, Chung W.K, Cibulskis K, Cohen B, Collins R.L, Connolly K.M, Correa A, Covarrubias M, Cummings B, Dabelea D, Danesh J, Darbar D, Denny J, Donnelly S, Duggirala R, Dupuis J, Ellinor P.T, Elosua R, Emery J, England E, Erdmann J, Esko T, Evangelista E, Farjoun Y, Fatkin D, Ferriera S, Florez J, Franke A, Färkkilä M, Gabriel S, Garimella K, Gauthier L.D, Gentry J, Getz G, Glahn D.C, Glaser B, Glatt S.J, Goldstein D, Gonzalez C, Groop L, Gudmundsson S, Gupta N, Haessly A, Haiman C, Hall I, Hanis C, Harms M, Hiltunen M, Holi M.M, Hultman C.M, Jalas C, Jeandet T, Kallela M, Kaplan D, Kaprio J, Kathiresan S, Kenny E, Kim B.-J, Kim Y.J, Kirov G, Koenig Z, Kooner J, Koskinen S, Krumholz H.M, Kugathasan S, Kwak S.H, Laakso M, Lake N, Langsford T, Laricchia K.M, Lehtimäki T, Lek M, Lipscomb E, Llanwarne C, Loos R.J.F, Lubitz S.A, Luna T.T, Ma R.C.W, Marcus G.M, Marrugat J, Martin A.R, Mattila K.M, McCarroll S, McCarthy M.I, McCauley J, McGovern D, McPherson R, Meigs J.B, Melander O, Metspalu A, Meyers D, Minikel E.V, Mitchell B.D, Mootha V.K, Munshi R, Naheed A, Nazarian S, Nilsson P.M, Novod S, O’Donnell-Luria A.H, O’Donovan M.C, Okada Y, Ongur D, Orozco L, Owen M.J, Palmer C, Palmer N.D, Palotie A, Park K.S, Pato C, Petrillo N, Phu W, Poterba T, Pulver A.E, Rader D, Rahman N, Reiner A, Remes A.M, Rhodes D, Rich S, Rioux J.D, Ripatti S, Roazen D, Roden D.M, Rotter J.I, Ruano-Rubio V, Sahakian N, Saleheen D, Salomaa V, Saltzman A, Samani N.J, Scharf J, Schleicher M, Schunkert H, Schönherr S, Seaby E, Seed C, Shah S.H, Shand M, Shoemaker M.B, Shyong T, Silverman E.K, Sklar P, Smith J.G, Smith J.T, Soininen H, Sokol H, Son R.G, Soto J, Spector T, Stevens C, Stitziel N, Sullivan P.F, Suvisaari J, Tai E.S, Talkowski M.E, Tarasova Y, Taylor K.D, Teo Y.Y, Tibbetts K, Tolonen C, Tsuang M, Tuomi T, Turner D, Tusie-Luna T, Vartiainen E, Vawter M, Vittal C, Wade G, Wang A, Wang Q, Ware J.S, Watkins H, Weersma R.K, Weisburd B, Wessman M, Whiffin N, Wilson M.W, Wilson J.G, Xavier R.J, Yohannes M.T, Tiao G, Neale B.M, Hirschhorn J.N, Rehm H.L, Daly M.J, O’Donnell-Luria A, Karczewski K.J, MacArthur D.G, Samocha K.E

Nature Genetics　Vol. 56　No. 1　p. 152-161　2023/12/06　Research paper (scientific journal)

A genomic mutational constraint map using variation in 76,156 human genomes

Chen S, Francioli L.C, Goodrich J.K, Collins R.L, Kanai M, Wang Q, Alföldi J, Watts N.A, Vittal C, Gauthier L.D, Poterba T, Wilson M.W, Tarasova Y, Phu W, Grant R, Yohannes M.T, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K, Abreu M, Aguilar Salinas C.A, Ahmad T, Albert C.M, Ardissino D, Armean I.M, Atkinson E.G, Atzmon G, Barnard J, Baxter S.M, Beaugerie L, Benjamin E.J, Benjamin D, Boehnke M, Bonnycastle L.L, Bottinger E.P, Bowden D.W, Bown M.J, Brand H, Brant S, Brookings T, Bryant S, Calvo S.E, Campos H, Chambers J.C, Chan J.C, Chao K.R, Chapman S, Chasman D.I, Chisholm R, Cho J, Chowdhury R, Chung M.K, Chung W.K, Cibulskis K, Cohen B, Connolly K.M, Correa A, Cummings B.B, Dabelea D, Danesh J, Darbar D, Darnowsky P, Denny J, Duggirala R, Dupuis J, Ellinor P.T, Elosua R, Emery J, England E, Erdmann J, Esko T, Evangelista E, Fatkin D, Florez J, Franke A, Fu J, Färkkilä M, Garimella K, Gentry J, Getz G, Glahn D.C, Glaser B, Glatt S.J, Goldstein D, Gonzalez C, Groop L, Gudmundsson S, Haessly A, Haiman C, Hall I, Hanis C.L, Harms M, Hiltunen M, Holi M.M, Hultman C.M, Jalas C, Kallela M, Kaplan D, Kaprio J, Kathiresan S, Kenny E.E, Kim B.-J, Kim Y.J, King D, Kirov G, Kooner J, Koskinen S, Krumholz H.M, Kugathasan S, Kwak S.H, Laakso M, Lake N, Langsford T, Laricchia K.M, Lehtimäki T, Lek M, Lipscomb E, Loos R.J.F, Lu W, Lubitz S.A, Luna T.T, Ma R.C.W, Marcus G.M, Marrugat J, Mattila K.M, McCarroll S, McCarthy M.I, McCauley J.L, McGovern D, McPherson R, Meigs J.B, Melander O, Metspalu A, Meyers D, Minikel E.V, Mitchell B.D, Mootha V.K, Naheed A, Nazarian S, Nilsson P.M, O’Donovan M.C, Okada Y, Ongur D, Orozco L, Owen M.J, Palmer C, Palmer N.D, Palotie A, Park K.S, Pato C, Pulver A.E, Rader D, Rahman N, Reiner A, Remes A.M, Rhodes D, Rich S, Rioux J.D, Ripatti S, Roden D.M, Rotter J.I, Sahakian N, Saleheen D, Salomaa V, Saltzman A, Samani N.J, Samocha K.E, Sanchis-Juan A, Scharf J, Schleicher M, Schunkert H, Schönherr S, Seaby E.G, Shah S.H, Shand M, Sharpe T, Shoemaker M.B, Shyong T, Silverman E.K, Singer-Berk M, Sklar P, Smith J.T, Smith J.G, Soininen H, Sokol H, Son R.G, Soto J, Spector T, Stevens C, Stitziel N.O, Sullivan P.F, Suvisaari J, Tai E.S, Taylor K.D, Teo Y.Y, Tsuang M, Tuomi T, Turner D, Tusie-Luna T, Vartiainen E, Vawter M, Wang L, Wang A, Ware J.S, Watkins H, Weersma R.K, Weisburd B, Wessman M, Whiffin N, Wilson J.G, Xavier R.J, O’Donnell-Luria A, Solomonson M, Seed C, Martin A.R, Talkowski M.E, Rehm H.L, Daly M.J, Tiao G, Neale B.M, MacArthur D.G, Karczewski K.J, Genome Aggregation, Database Consortium

Nature　Vol. 625　No. 7993　p. 92-100　2023/12/06　Research paper (scientific journal)

Estimating gene-level false discovery probability improves eQTL statistical fine-mapping precision.

Wang QS, Edahiro R, Namkoong H, Hasegawa T, Shirai Y, Sonehara K, Japan COVID, Task Force, Kumanogoh A, Ishii M, Koike R, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Okada Y

NAR genomics and bioinformatics　Vol. 5　No. 4　2023/12　Research paper (scientific journal)

Prognostic significance of hypertension history and blood pressure on admission in Japanese patients with coronavirus disease 2019: integrative analysis from the Japan COVID-19 Task Force

Sakurai K, Chubachi S, Asakura T, Namkoong H, Tanaka H, Azekawa S, Shimada T, Otake S, Nakagawara K, Fukushima T, Lee H, Watase M, Kusumoto T, Masaki K, Kamata H, Ishii M, Hasegawa N, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K

Hypertension Research　Vol. 47　No. 3　p. 639-648　2023/11/02　Research paper (scientific journal)

日本人COVID-19の重症化とDOCK2

枝廣 龍哉, 熊ノ郷 淳, 岡田 随象

臨床免疫・アレルギー科　Vol. 80　No. 5　p. 568-574　2023/11

Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population.

Tomofuji Y, Kishikawa T, Sonehara K, Maeda Y, Ogawa K, Kawabata S, Oguro-Igashira E, Okuno T, Nii T, Kinoshita M, Takagaki M, Yamamoto K, Arase N, Yagita-Sakamaki M, Hosokawa A, Motooka D, Matsumoto Y, Matsuoka H, Yoshimura M, Ohshima S, Nakamura S, Fujimoto M, Inohara H, Kishima H, Mochizuki H, Takeda K, Kumanogoh A, Okada Y

Cell reports　p. 113324-113324　2023/10/30　Research paper (scientific journal)

Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins

Taniguchi J, Masuda T, Iwatani Y, Yamamoto K, Osaka Twin, Research Group, Sakai N, Okada Y, Watanabe M

Clinical Genetics　Vol. 105　No. 2　p. 159-172　2023/10/29　Research paper (scientific journal)

Genome-wide assessment of genetic risk loci for childhood acute lymphoblastic leukemia in Japanese patients

Hangai M., Kawaguchi T., Takagi M., Matsuo K., Jeon S., Chiang CWK, Dewan AT, De Smith AJ, Imamura T., Okamoto Y., Saito AM, Deguchi T., Kubo M., Tanaka Y., Ayukawa Y., Hori T., Ohki K., Kiyokawa N., Inukai T., Arakawa Y., Mori M., Hasegawa D., Tomizawa D., Fukushima H., Yuza Y., Noguchi Y., Taneyama Y., Ota S., Goto H., Yanagimachi M., Keino D., Koike K., Toyama D., Nakazawa Y., Nakamura K., Moriwaki K., Sekinaka Y., Morita D., Hirabayashi S., Hosoya Y., Yoshimoto Y., Yoshihara H., Ozawa M., Kobayashi S., Morisaki N., Gyeltshen T., Takahashi O., Okada Y., Matsuda M., Tanaka T., Inazawa J., Takita J., Ishida Y., Ohara A., Metayer C., Wiemels JL, Ma X., Mizutani S., Koh K., Momozawa Y., Horibe K., Matsuda F., Kato M., Manabe A., Urayama KY

Haematologica　2023/10/26　Research paper (scientific journal)

Single-cell multi-omics analysis identifies two distinct phenotypes of newly-onset microscopic polyangiitis.

Nishide M, Nishimura K, Matsushita H, Edahiro R, Inukai S, Shimagami H, Kawada S, Kato Y, Kawasaki T, Tsujimoto K, Kamon H, Omiya R, Okada Y, Hattori K, Narazaki M, Kumanogoh A

Nature communications　Vol. 14　No. 1　p. 5789-5789　2023/10/11　Research paper (scientific journal)

Multifaceted analysis of cross-tissue transcriptomes reveals phenotype–endotype associations in atopic dermatitis

Sekita A, Kawasaki H, Fukushima-Nomura A, Yashiro K, Tanese K, Toshima S, Ashizaki K, Miyai T, Yazaki J, Kobayashi A, Namba S, Naito T, Wang QS, Kawakami E, Seita J, Ohara O, Sakurada K, Okada Y, Amagai M, Koseki H

Nature Communications　Vol. 14　No. 1　2023/10/02　Research paper (scientific journal)

Clinical characteristics of patients with COVID-19 harboring detectable intracellular SARS-CoV-2 RNA in peripheral blood cells

Tanaka H, Namkoong H, Chubachi S, Irie S, Uwamino Y, Lee H, Azekawa S, Otake S, Nakagawara K, Fukushima T, Watase M, Kusumoto T, Masaki K, Kamata H, Ishii M, Okada Y, Takano T, Imoto S, Koike R, Kimura A, Miyano S, Ogawa S, Kanai T, Sato TA, Fukunaga K, Japan COVID, Task Force

International Journal of Infectious Diseases　Vol. 135　p. 41-44　2023/10　Research paper (scientific journal)

Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores

Campos AI, Namba S., Lin SC, Nam K., Sidorenko J., Wang H., Kamatani Y., Biobank Japan Projec, Wang LH, Lee S., Lin YF, Feng YA, Okada Y., Visscher PM, Yengo L.

Nature Genetics　Vol. 55　No. 10　p. 1769-1776　2023/09/18　Research paper (scientific journal)

Association between circ_0004365 and cisplatin resistance in esophageal squamous cell carcinoma

Yamada M, Tanaka K, Yamamoto K, Matsumoto H, Yamasaki M, Yamashita K, Makino T, Saito T, Yamamoto K, Takahashi T, Kurokawa Y, Nakajima K, Okada Y, Eguchi H, Doki Y

Oncology Letters　Vol. 26　No. 5　2023/09/18　Research paper (scientific journal)

A second update on mapping the human genetic architecture of COVID-19

COVID, Host Genetics Initiative

Nature　Vol. 621　No. 7977　p. E7-E26　2023/09/06　Research paper (scientific journal)

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

International League Agains, Epilepsy Consortium on Complex Epilepsies

Nature Genetics　Vol. 55　No. 9　p. 1471-1482　2023/08/31　Research paper (scientific journal)

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, Grenier-Boley B, Naito T, Küçükali F, Talyansky SD, Yogeshwar SM, Sempere V, Satake W, Alvarez V, Arosio B, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Düzel E, Galimberti D, Garcia-Ribas G, García-Alberca JM, García-González P, Giedraitis V, Goldhardt O, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jürgen D, Kern S, Kuulasmaa T, Lee KH, Lin L, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Boada M, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Niida S, Nordestgaard BG, Papenberg G, Papma J, Parnetti L, Pasquier F, Pastor P, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Porcel LM, Puerta R, Pérez-Tur J, Rainero I, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Ross OA, Luís Royo J, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Skoog I, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sánchez-Valle R, Tan EK, ThoTegos T, Teunissen C, Thomassen JQ, Tremolizzo L, Vyhnalek M, Verhey F, Waern M, Wiltfang J, Zhang J, EADB, GR@ACE study group, DEGESCO consortium, DemGene, EADI, GERAD, Asian Parkinson's, Disease Genetics consortium, Zetterberg H, Blennow K, He Z, Williams J, Amouyel P, Jessen F, Kehoe PG, Andreassen OA, Duin CV, Tsolaki M, Sánchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Zettergren A, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Ozaki K, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Mata I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD, Mignot E

Proceedings of the National Academy of Sciences　Vol. 120　No. 36　2023/08/29　Research paper (scientific journal)

Association between ABO blood group/genotype and COVID-19 in a Japanese population

Kusumoto T, Chubachi S, Namkoong H, Tanaka H, Lee H, Azekawa S, Otake S, Nakagawara K, Fukushima T, Morita A, Watase M, Sakurai K, Asakura T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Sano H, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K

Annals of Hematology　2023/08/15　Research paper (scientific journal)

Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease.

Saori Sakaue, Saisriram Gurajala, Michelle Curtis, Yang Luo, Wanson Choi, Kazuyoshi Ishigaki, Joyce B Kang, Laurie Rumker, Aaron J Deutsch, Sebastian Schönherr, Lukas Forer, Jonathon LeFaive, Christian Fuchsberger, Buhm Han, Tobias L Lenz, Paul I W de Bakker, Yukinori Okada, Albert V Smith, Soumya Raychaudhuri

Nature protocols　2023/07/26　Research paper (scientific journal)

【統合オミックス解析】応用解析編 COVID-19の重症度に関連した末梢血単核細胞のシングルセル解析

白井 雄也, 枝廣 龍哉, 熊ノ郷 淳, 岡田 随象

遺伝子医学　Vol. 13　No. 3　p. 63-70　2023/07

Use of the neutrophil-to-lymphocyte ratio and an oxygen requirement to predict disease severity in patients with COVID-19

Ozawa T, Asakura T, Chubachi S, Namkoong H, Tanaka H, Lee K, Fukushima T, Otake S, Nakagawara K, Watase M, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Murakami K, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

Respiratory Investigation　Vol. 61　No. 4　p. 454-459　2023/07　Research paper (scientific journal)

Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis

Akiyama Y, Sonehara K, Maeda D, Katoh H, Naito T, Yamamoto K, Biobank Japan Projec, Morisaki T, Ishikawa S, Ushiku T, Kume H, Homma Y, Okada Y

Cell Reports Medicine　Vol. 4　No. 7　p. 101114-101114　2023/07　Research paper (scientific journal)

Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis.

Sato G, Shirai Y, Namba S, Edahiro R, Sonehara K, Hata T, Uemura M, Biobank Japan Projec, Matsuda K, Doki Y, Eguchi H, Okada Y

Nature communications　Vol. 14　No. 1　p. 3671-3671　2023/06/20　Research paper (scientific journal)

Propensity-Score Matched Analysis of the Effectiveness of Baricitinib in Patients With Coronavirus Disease 2019 (COVID-19) Using Nationwide Real-World Data: An Observational Matched Cohort Study From the Japan COVID-19 Task Force

Tanaka H, Chubachi S, Namkoong H, Sato Y, Asakura T, Lee H, Azekawa S, Otake S, Nakagawara K, Fukushima T, Watase M, Sakurai K, Kusumoto T, Kondo Y, Masaki K, Kamata H, Ishii M, Kaneko Y, Hasegawa N, Ueda S, Sasaki M, Izumo T, Inomata M, Miyazawa N, Kimura Y, Suzuki Y, Harada N, Ichikawa M, Takata T, Ishikura H, Yoshiyama T, Kokuto H, Murakami K, Sano H, Ueda T, Kuwahara N, Fujiwara A, Ogura T, Inoue T, Asami T, Mutoh Y, Nakachi I, Baba R, Nishi K, Tani M, Kagyo J, Hashiguchi M, Oguma T, Asano K, Nishikawa M, Watanabe H, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K

Open Forum Infectious Diseases　Vol. 10　No. 7　2023/06/08　Research paper (scientific journal)

Serum KL-6 levels predict clinical outcomes and are associated withMUC1polymorphism in Japanese patients with COVID-19

Azekawa S, Chubachi S, Asakura T, Namkoong H, Sato Y, Edahiro R, Lee H, Tanaka H, Otake S, Nakagawara K, Fukushima T, Watase M, Sakurai K, Kusumoto T, Masaki K, Kamata H, Ishii M, Hasegawa N, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

BMJ Open Respiratory Research　Vol. 10　No. 1　p. e001625-e001625　2023/05/25　Research paper (scientific journal)

Reconstruction of the personal information from human genome reads in gut metagenome sequencing data.

Tomofuji Y, Sonehara K, Kishikawa T, Maeda Y, Ogawa K, Kawabata S, Nii T, Okuno T, Oguro-Igashira E, Kinoshita M, Takagaki M, Yamamoto K, Kurakawa T, Yagita-Sakamaki M, Hosokawa A, Motooka D, Matsumoto Y, Matsuoka H, Yoshimura M, Ohshima S, Nakamura S, Inohara H, Kishima H, Mochizuki H, Takeda K, Kumanogoh A, Okada Y

Nature microbiology　Vol. 8　No. 6　p. 1079-1094　2023/05/15　Research paper (scientific journal)

Impact of respiratory bacterial infections on mortality in Japanese patients with COVID-19: a retrospective cohort study

Nakagawara K, Kamata H, Chubachi S, Namkoong H, Tanaka H, Lee H, Otake S, Fukushima T, Kusumoto T, Morita A, Azekawa S, Watase M, Asakura T, Masaki K, Ishii M, Endo A, Koike R, Ishikura H, Takata T, Matsushita Y, Harada N, Kokutou H, Yoshiyama T, Kataoka K, Mutoh Y, Miyawaki M, Ueda S, Ono H, Ono T, Shoko T, Muranaka H, Kawamura K, Mori N, Mochimaru T, Fukui M, Chihara Y, Nagasaki Y, Okamoto M, Amishima M, Odani T, Tani M, Nishi K, Shirai Y, Edahiro R, Ando A, Hashimoto N, Ogura S, Kitagawa Y, Kita T, Kagaya T, Kimura Y, Miyazawa N, Tsuchida T, Fujitani S, Murakami K, Sano H, Sato Y, Tanino Y, Otsuki R, Mashimo S, Kuramochi M, Hosoda Y, Hasegawa Y, Ueda T, Takaku Y, Ishiguro T, Fujiwara A, Kuwahara N, Kitamura H, Hagiwara E, Nakamori Y, Saito F, Kono Y, Abe S, Ishii T, Ohba T, Kusaka Y, Watanabe H, Masuda M, Watanabe H, Kimizuka Y, Kawana A, Kasamatsu Y, Hashimoto S, Okada Y, Takano T, Katayama K, Ai M, Kumanogoh A, Sato T, Tokunaga K, Imoto S, Kitagawa Y, Kimura A, Miyano S, Hasegawa N, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

BMC Pulmonary Medicine　Vol. 23　No. 1　2023/04/26　Research paper (scientific journal)

Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity.

Edahiro R, Shirai Y, Takeshima Y, Sakakibara S, Yamaguchi Y, Murakami T, Morita T, Kato Y, Liu YC, Motooka D, Naito Y, Takuwa A, Sugihara F, Tanaka K, Wing JB, Sonehara K, Tomofuji Y, Japan COVID, Task Force, Namkoong H, Tanaka H, Lee H, Fukunaga K, Hirata H, Takeda Y, Okuzaki D, Kumanogoh A, Okada Y

Nature genetics　Vol. 55　No. 5　p. 753-767　2023/04/24　Research paper (scientific journal)

Cardiac 18F‑FDG uptake and new‑onset rectal cancer

Sawaragi K, Okada Y, Aono Y, Yasuoka R, Takayama S, Yao R, Mitsuyama T, Saigusa S, Fujikawa H, Mori T, Hashimoto M, Higashi K, Sakurai H, Tanaka K, Okugawa Y, Tanaka N, Toiyama Y, Okazaki K, Naganuma M

Oncology Letters　Vol. 25　No. 5　2023/04/03　Research paper (scientific journal)

Diagnostic significance of secondary bacteremia in patients with COVID-19

Nakagawara K, Kamata H, Chubachi S, Namkoong H, Tanaka H, Lee H, Otake S, Fukushima T, Kusumoto T, Morita A, Azekawa S, Watase M, Asakura T, Masaki K, Ishii M, Endo A, Koike R, Ishikura H, Takata T, Matsushita Y, Harada N, Kokutou H, Yoshiyama T, Kataoka K, Mutoh Y, Miyawaki M, Ueda S, Ono H, Ono T, Shoko T, Muranaka H, Kawamura K, Mori N, Mochimaru T, Fukui M, Chihara Y, Nagasaki Y, Okamoto M, Amishima M, Odani T, Tani M, Nishi K, Shirai Y, Edahiro R, Ando A, Hashimoto N, Ogura S, Kitagawa Y, Kita T, Kagaya T, Kimura Y, Miyazawa N, Tsuchida T, Fujitani S, Murakami K, Sano H, Sato Y, Tanino Y, Otsuki R, Mashimo S, Kuramochi M, Hosoda Y, Hasegawa Y, Ueda T, Takaku Y, Ishiguro T, Fujiwara A, Kuwahara N, Kitamura H, Hagiwara E, Nakamori Y, Saito F, Kono Y, Abe S, Ishii T, Ohba T, Kusaka Y, Watanabe H, Masuda M, Watanabe H, Kimizuka Y, Kawana A, Kasamatsu Y, Hashimoto S, Okada Y, Takano T, Katayama K, Ai M, Kumanogoh A, Sato T, Tokunaga K, Imoto S, Kitagawa Y, Kimura A, Miyano S, Hasegawa N, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

Journal of Infection and Chemotherapy　Vol. 29　No. 4　p. 422-426　2023/04　Research paper (scientific journal)

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.

Duperron MG, Knol MJ, Le Grand Q, Evans TE, Mishra A, Tsuchida A, Roshchupkin G, Konuma T, Trégouët DA, Romero JR, Frenzel S, Luciano M, Hofer E, Bourgey M, Dueker ND, Delgado P, Hilal S, Tankard RM, Dubost F, Shin J, Saba Y, Armstrong NJ, Bordes C, Bastin ME, Beiser A, Brodaty H, Bülow R, Carrera C, Chen C, Cheng CY, Deary IJ, Gampawar PG, Himali JJ, Jiang J, Kawaguchi T, Li S, Macalli M, Marquis P, Morris Z, Muñoz Maniega S, Miyamoto S, Okawa M, Paradise M, Parva P, Rundek T, Sargurupremraj M, Schilling S, Setoh K, Soukarieh O, Tabara Y, Teumer A, Thalamuthu A, Trollor JN, Valdés Hernández MC, Vernooij MW, Völker U, Wittfeld K, Wong TY, Wright MJ, Zhang J, Zhao W, Zhu YC, Schmidt H, Sachdev PS, Wen W, Yoshida K, Joutel A, Satizabal CL, Sacco RL, Bourque G, CHARGE consortium, Lathrop M, Paus T, Fernandez-Cadenas I, Yang Q, Mazoyer B, Boutinaud P, Okada Y, Grabe HJ, Mather KA, Schmidt R, Joliot M, Ikram MA, Matsuda F, Tzourio C, Wardlaw JM, Seshadri S, Adams HHH, Debette S

Nature medicine　Vol. 29　No. 4　p. 950-962　2023/04　Research paper (scientific journal)

Genome-Wide Association Study of Age-Related Macular Degeneration Reveals 2 New Loci Implying Shared Genetic Components with Central Serous Chorioretinopathy

Akiyama M, Miyake M, Momozawa Y, Arakawa S, Maruyama-Inoue M, Endo M, Iwasaki Y, Ishigaki K, Matoba N, Okada Y, Yasuda M, Oshima Y, Yoshida S, Nakao SY, Morino K, Mori Y, Kido A, Kato A, Yasukawa T, Obata R, Nagai Y, Takahashi K, Fujisawa K, Miki A, Nakamura M, Honda S, Ushida H, Yasuma T, Nishiguchi KM, Mori R, Tanaka K, Wakatsuki Y, Yamashiro K, Kadonosono K, Terao C, Ishibashi T, Tsujikawa A, Sonoda KH, Kubo M, Kamatani Y

Ophthalmology　Vol. 130　No. 4　p. 361-372　2023/04　Research paper (scientific journal)

A cross-trait genetic correlation study identified eight diseases and traits associated with psoriasis.

Ogawa K, Tsoi LC, Tanaka H, Kanai M, Stuart PE, Nair RP, Tanaka Y, Mochizuki H, Elder JT, Okada Y

The Journal of investigative dermatology　Vol. 143　No. 9　p. 1813-1816　2023/03/09　Research paper (scientific journal)

Impact of accumulative smoking exposure and chronic obstructive pulmonary disease on COVID-19 outcomes: report based on findings from the Japan COVID-19 task force

Watase M, Masaki K, Chubachi S, Namkoong H, Tanaka H, Lee H, Fukushima T, Otake S, Nakagawara K, Kusumoto T, Asakura T, Kamata H, Ishii M, Hasegawa N, Oyamada Y, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Sano H, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

International Journal of Infectious Diseases　Vol. 128　p. 121-127　2023/03　Research paper (scientific journal)

Genetic Risk of Primary Aldosteronism and Its Contribution to Hypertension: A Cross-Ancestry Meta-Analysis of Genome-Wide Association Study

Naito T, Inoue K, Sonehara K, Baba R, Kodama T, Otagaki Y, Okada A, Itcho K, Kobuke K, Kishimoto S, Yamamoto K, BioBank Japan, Morisaki T, Higashi Y, Hinata N, Arihiro K, Hattori N, Okada Y, Oki K

Circulation　2023/02/21　Research paper (scientific journal)

Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals

Akiyama M, Sakaue S, Takahashi A, Ishigaki K, Hirata M, Matsuda K, Momozawa Y, Okada Y, Ninomiya T, Biobank Japan, projec, Terao C, Murakami Y, Kubo M, Kamatani Y

Communications Biology　Vol. 6　No. 1　2023/02/03　Research paper (scientific journal)

A genomewide association study for allergen component sensitizations identifies allergen component-specific and allergen protein group-specific associations

Morii W, Kasai K, Nakamura T, Hayashi D, Hara M, Naito T, Sonehara K, Fukuie T, Saito-Abe M, Yang L, Yamamoto-Hanada K, Narita M, Maruo K, Okada Y, Noguchi E, Ohya Y

Journal of Allergy and Clinical Immunology: Global　p. 100086-100086　2023/02　Research paper (scientific journal)

A sex-biased imbalance between Tfr, Tph, and atypical B cells determines antibody responses in COVID-19 patients.

Søndergaard JN, Tulyeu J, Edahiro R, Shirai Y, Yamaguchi Y, Murakami T, Morita T, Kato Y, Hirata H, Takeda Y, Okuzaki D, Sakaguchi S, Kumanogoh A, Okada Y, Wing JB

Proceedings of the National Academy of Sciences of the United States of America　Vol. 120　No. 4　2023/01/24　Research paper (scientific journal)

Genomic repertoires linked with pathogenic potency of arthritogenicPrevotella copriisolated from the gut of patients with rheumatoid arthritis

Nii T, Maeda Y, Motooka D, Naito M, Matsumoto Y, Ogawa T, Oguro-Igashira E, Kishikawa T, Yamashita M, Koizumi S, Kurakawa T, Okumura R, Kayama H, Murakami M, Sakaguchi T, Das B, Nakamura S, Okada Y, Kumanogoh A, Takeda K

Annals of the Rheumatic Diseases　Vol. 82　No. 5　p. 621-629　2023/01/10　Research paper (scientific journal)

Identification of serum metabolome signatures associated with retinal and renal complications of type 2 diabetes

Tomofuji Y, Suzuki K, Kishikawa T, Shojima N, Hosoe J, Inagaki K, Matsubayashi S, Ishihara H, Watada H, Ishigaki Y, BioBank Japan, Projec, Inohara H, Murakami Y, Matsuda K, Okada Y, Yamauchi T, Kadowaki T

Communications Medicine　Vol. 3　No. 1　p. 5-5　2023/01/09　Research paper (scientific journal)

Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Wang Y, Namba S, Lopera E, Kerminen S, Tsuo K, Läll K, Kanai M, Zhou W, Wu KH, Favé MJ, Bhatta L, Awadalla P, Brumpton B, Deelen P, Hveem K, Lo Faro V, Mägi R, Murakami Y, Sanna S, Smoller JW, Uzunovic J, Wolford BN, Global Biobank Meta-analysis Initiative, Willer C, Gamazon ER, Cox NJ, Surakka I, Okada Y, Martin AR, Hirbo J

Cell Genomics　Vol. 3　No. 1　p. 100241-100241　2023/01　Research paper (scientific journal)

Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology

Wang Y., Kanai M., Tan T., Kamariza M., Tsuo K., Yuan K., Zhou W., Okada Y., BioBank Japan Projec, Huang H., Turley P., Atkinson EG, Martin AR

2022/12/30　Research paper (scientific journal)

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka, Shweta Ramdas, Xiang Zhu, Shoa L. Clarke, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Greg J. M. Zajac, Kuan-Han H. Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T. Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F. Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M. Brumpton, Humaira Rasheed, Aki S. Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A. Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J. Kullo, Akira Narita, Jun Takayama, Hilary C. Martin, Karen A. Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, Asif Rasheed, George Hindy, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian’an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Noha A. Yousri, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Anne A. Bjerregaard, Jie Yao, Ani Manichaikul, Chii-Min Hwu, Yi-Jen Hung, Helen R. Warren, Julia Ramirez, Jette Bork-Jensen, Line L. Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F. McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Møllehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, Sanni E. Ruotsalainen, EWarwick Daw, Joseph M. Zmuda, Jonathan S. Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A. Brody, Miguel Vazquez-Moreno, Mary F. Feitosa, Mary K. Wojczynski, Zhe Wang, Michael H. Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W. Benjamins, Jorgen Engmann, Noah L. Tsao, Anurag Verma, Roderick C. Slieker, Ken Sin Lo, Nuno R. Zilhao, Phuong Le, Marcus E. Kleber, Graciela E. Delgado, Shaofeng Huo, Daisuke D. Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayşe Demirkan, Hampton L. Leonard, Jonathan Marten, Mirjam Frank, Börge Schmidt, Laura J. Smyth, Marisa Cañadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kähönen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S. Nongmaithem, Swati Bayyana, Heather M. Stringham, Marguerite R. Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R. H. J. Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A. Lange, Gauri Prasad, Laura Lorés-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N. Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C. Warner, Ya Xing Wang, Wen B. Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A. Kentistou, Bernhard Banas, Giuseppe Giovanni Nardone, Karina Meidtner, Lawrence F. Bielak, Jennifer A. Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J. van der Most, Niina Pitkänen, Brian E. Cade, Sander W. van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R. Bentley, Ayo P. Doumatey, Adebowale A. Adeyemo, Jong Young Lee, Eva R. B. Petersen, Aneta A. Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W. Rayner, Carol A. Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O. Obura, Jessica van Setten, Xiaoyin Li, Jingjing Liang, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D. Jackson, Alexander P. Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C. Bis, Lenore J. Launer, Huaixing Li, Mike A. Nalls, Olli T. Raitakari, Sahoko Ichihara, Sarah H. Wild, Christopher P. Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S. Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J. de Borst, Eung Kweon Kim, Hieab H. H. Adams, M. Arfan Ikram, Xiaofeng Zhu, Folkert W. Asselbergs, Adriaan O. Kraaijeveld, Joline W. J. Beulens, Xiao-Ou Shu, Loukianos S. Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W. Hewitt, Mika Kähönen, Louis Pérusse, Claude Bouchard, Anke Tönjes, Yii-Der Ida Chen, Craig E. Pennell, Trevor A. Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M. Heid, Klaus J. Stark, Martina E. Zimmermann, Henry Völzke, Georg Homuth, Michele K. Evans, Alan B. Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E. Hoefer, Susan Redline, Katja Pahkala, Albertine J. Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon L. R. Kardia, Patricia A. Peyser, Norihiro Kato, Matthias B. Schulze, Giorgia Girotto, Carsten A. Böger, Bettina Jung, Peter K. Joshi, David A. Bennett, Philip L. De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J. Caulfield, Patricia B. Munroe, Xiuqing Guo, Marina Ciullo, Jost B. Jonas, Nilesh J. Samani, Jaakko Kaprio, Päivi Pajukanta, Teresa Tusié-Luna, Carlos A. Aguilar-Salinas, Linda S. Adair, Sonny Augustin Bechayda, H. Janaka de Silva, Ananda R. Wickremasinghe, Ronald M. Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke Iden Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G. Wilson, Lars Lind, Chew-Kiat Heng, Amanda E. Nelson, Yvonne M. Golightly, James F. Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J. Scott, D. C. Rao, Donna K. Arnett, Steven C. Hunt, Mark Walker, Heikki A. Koistinen, Giriraj R. Chandak, Josep M. Mercader, Maria C. Costanzo, Dongkeun Jang, Noël P. Burtt, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, EShyong Tai, Rob M. van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F. Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jöckel, Mark I. McCarthy, Colin N. A. 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Rotter, Thomas M. Dantoft, Fredrik Karpe, Matt J. Neville, Nicholas J. Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T. Hattersley, Nancy L. Pedersen, Patrik K. E. Magnusson, Dorret I. Boomsma, Allegonda H. M. Willemsen, LAdrienne Cupples, Joyce B. J. van Meurs, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J. Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C. Chambers, Jaspal S. Kooner, Paul S. de Vries, Alanna C. Morrison, Scott Hazelhurst, Michèle Ramsay, Kari E. North, Martha Daviglus, Peter Kraft, Nicholas G. Martin, John B. Whitfield, Shahid Abbas, Danish Saleheen, Robin G. Walters, Michael V. Holmes, Corri Black, Blair H. Smith, Aris Baras, Anne E. Justice, Julie E. Buring, Paul M. Ridker, Daniel I. 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Genome Biology　Vol. 23　No. 1　p. 268-268　2022/12/27　Research paper (scientific journal)

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Yoshioka W, Iida A, Sonehara K, Yamamoto K, Oya Y, Mori-Yoshimura M, Kurashige T, Okubo M, Ogawa M, Matsuda F, Higasa K, Hayashi S, Nakamura H, Sekijima M, Okada Y, Noguchi S, Nishino I

Scientific Reports　Vol. 12　No. 1　p. 21806-21806　2022/12/16　Research paper (scientific journal)

Characteristics of hospitalized patients with COVID-19 during the first to fifth waves of infection: a report from the Japan COVID-19 Task Force

Lee H, Chubachi S, Namkoong H, Asakura T, Tanaka H, Otake S, Nakagawara K, Morita A, Fukushima T, Watase M, Kusumoto T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Murakami K, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

BMC Infectious Diseases　Vol. 22　No. 1　2022/12/12　Research paper (scientific journal)

Genetic diversity fuels gene discovery for tobacco and alcohol use

Saunders GRB, Wang X, Chen F, Jang SK, Liu M, Wang C, Gao S, Jiang Y, Khunsriraksakul C, Otto JM, Addison C, Akiyama M, Albert CM, Aliev F, Alonso A, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Barr RG, Bartz TM, Becker DM, Bielak LF, Benjamin EJ, Bis JC, Bjornsdottir G, Blangero J, Bleecker ER, Boardman JD, Boerwinkle E, Boomsma DI, Boorgula MP, Bowden DW, Brody JA, Cade BE, Chasman DI, Chavan S, Chen YI, Chen Z, Cheng I, Cho MH, Choquet H, Cole JW, Cornelis MC, Cucca F, Curran JE, de Andrade M, Dick DM, Docherty AR, Duggirala R, Eaton CB, Ehringer MA, Esko T, Faul JD, Silva LF, Fiorillo E, Fornage M, Freedman BI, Gabrielsen ME, Garrett ME, Gharib SA, Gieger C, Gillespie N, Glahn DC, Gordon SD, Gu CC, Gu D, Gudbjartsson DF, Guo X, Haessler J, Hall ME, Haller T, Harris KM, He J, Herd P, Hewitt JK, Hickie I, Hidalgo B, Hokanson JE, Hopfer C, Hottenga J, Hou L, Huang H, Hung YJ, Hunter DJ, Hveem K, Hwang SJ, Hwu CM, Iacono W, Irvin MR, Jee YH, Johnson EO, Joo YY, Jorgenson E, Justice AE, Kamatani Y, Kaplan RC, Kaprio J, Kardia SLR, Keller MC, Kelly TN, Kooperberg C, Korhonen T, Kraft P, Krauter K, Kuusisto J, Laakso M, Lasky-Su J, Lee WJ, Lee JJ, Levy D, Li L, Li K, Li Y, Lin K, Lind PA, Liu C, Lloyd-Jones DM, Lutz SM, Ma J, Mägi R, Manichaikul A, Martin NG, Mathur R, Matoba N, McArdle PF, McGue M, McQueen MB, Medland SE, Metspalu A, Meyers DA, Millwood IY, Mitchell BD, Mohlke KL, Moll M, Montasser ME, Morrison AC, Mulas A, Nielsen JB, North KE, Oelsner EC, Okada Y, Orrù V, Palmer ND, Palviainen T, Pandit A, Park SL, Peters U, Peters A, Peyser PA, Polderman TJC, Rafaels N, Redline S, Reed RM, Reiner AP, Rice JP, Rich SS, Richmond NE, Roan C, Rotter JI, Rueschman MN, Runarsdottir V, Saccone NL, Schwartz DA, Shadyab AH, Shi J, Shringarpure SS, Sicinski K, Skogholt AH, Smith JA, Smith NL, Sotoodehnia N, Stallings MC, Stefansson H, Stefansson K, Stitzel JA, Sun X, Syed M, Tal-Singer R, Taylor AE, Taylor KD, Telen MJ, Thai KK, Tiwari H, Turman C, Tyrfingsson T, Wall TL, Walters RG, Weir DR, Weiss ST, White WB, Whitfield JB, Wiggins KL, Willemsen G, Willer CJ, Winsvold BS, Xu H, Yanek LR, Yin J, Young KL, Young KA, Yu B, Zhao W, Zhou W, Zöllner S, Zuccolo L, andMe Research Team, Biobank Japan, Projec, Batini C, Bergen AW, Bierut LJ, David SP, Gagliano Taliun SA, Hancock DB, Jiang B, Munafò MR, Thorgeirsson TE, Liu DJ, Vrieze S

Nature　Vol. 612　No. 7941　p. 720-724　2022/12/07　Research paper (scientific journal)

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

Masahiro Kanai, Roy Elzur, Wei Zhou, Mark J. Daly, Hilary K. Finucane, Wei Zhou, Masahiro Kanai, Kuan-Han H. Wu, Humaira Rasheed, Kristin Tsuo, Jibril B. Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia J. Partanen, Sinéad B. Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben M. Brumpton, Sameer Chavan, Tzu-Ting Chen, Michelle Daya, Yi Ding, Yen-Chen A. Feng, Lindsay A. Guare, Christopher R. Gignoux, Sarah E. Graham, Whitney E. Hornsby, Nathan Ingold, Said I. Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y. Millwood, Sonia Moreno-Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael H. Preuss, Chadi Saad, Shefali Setia-Verma, Unnur Thorsteinsdottir, Jasmina Uzunovic, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar M. Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H. de Bock, Scott M. Damrauer, Nicholas J. Douville, Sarah Finer, Lars G. Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Christopher J. Griffiths, Yu Guo, Karen A. Hunt, Alexander Ioannidis, Nomdo M. Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E. Marioni, Babak Moatamed, Marco A. Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas-Muñoz, Jonathan A. Shortt, Peter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C. Barnes, Marike Boezen, Zhengming Chen, Chia-Yen Chen, Judy Cho, George Davey Smith, Hilary K. Finucane, Lude Franke, Eric R. Gamazon, Andrea Ganna, Tom R. Gaunt, Tian Ge, Hailiang Huang, Jennifer Huffman, Nicholas Katsanis, Jukka T. Koskela, Clara Lajonchere, Matthew H. Law, Liming Li, Cecilia M. Lindgren, Ruth J.F. Loos, Stuart MacGregor, Koichi Matsuda, Catherine M. Olsen, David J. Porteous, Jordan A. Shavit, Harold Snieder, Tomohiro Takano, Richard C. Trembath, Judith M. Vonk, David C. Whiteman, Stephen J. Wicks, Cisca Wijmenga, John Wright, Jie Zheng, Xiang Zhou, Philip Awadalla, Michael Boehnke, Carlos D. Bustamante, Nancy J. Cox, Segun Fatumo, Daniel H. Geschwind, Caroline Hayward, Kristian Hveem, Eimear E. Kenny, Seunggeun Lee, Yen-Feng Lin, Hamdi Mbarek, Reedik Mägi, Hilary C. Martin, Sarah E. Medland, Yukinori Okada, Aarno V. Palotie, Bogdan Pasaniuc, Daniel J. Rader, Marylyn D. Ritchie, Serena Sanna, Jordan W. Smoller, Kari Stefansson, David A. van Heel, Robin G. Walters, Sebastian Zöllner, Biobank of the Americas, Biobank Japan Project, BioMe, BioVU, CanPath - Ontario Health Study, China Kadoorie Biobank Collaborative Group, Colorado Center for Personalized Medicine, deCODE Genetics, Estonian Biobank, FinnGen, Generation Scotland, Genes & Health Research Team, LifeLines, Mass General Brigham Biobank, Michigan Genomics Initiative, National Biobank of Korea, Penn Medicine BioBank, Qatar Biobank, The Qskin Sun and Health Study, Taiwan Biobank, The Hunt Study, Ucla Atlas Community Health Initiative, Uganda Genome Resource, Uk Biobank, Alicia R. Martin, Cristen J. Willer, Mark J. Daly, Benjamin M. Neale

Cell Genomics　Vol. 2　No. 12　p. 100210-100210　2022/12　Research paper (scientific journal)

Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity

Tsuo K, Zhou W, Wang Y, Kanai M, Namba S, Gupta R, Majara L, Nkambule LL, Morisaki T, Okada Y, Neale BM, Global Biobank Meta-analysis Initiative, Daly MJ

Cell Genomics　Vol. 2　No. 12　p. 100212-100212　2022/12　Research paper (scientific journal)

Control of naive and effector CD4 T cell receptor repertoires by rheumatoid-arthritis-risk HLA alleles

Nagafuchi Y, Ota M, Hatano H, Inoue M, Kobayashi S, Okubo M, Sugimori Y, Nakano M, Yamada S, Yoshida R, Tsuchida Y, Iwasaki Y, Shoda H, Okada Y, Yamamoto K, Ishigaki K, Okamura T, Fujio K

Journal of Autoimmunity　Vol. 133　p. 102907-102907　2022/12　Research paper (scientific journal)

Prokaryotic and viral genomes recovered from 787 Japanese gut metagenomes revealed microbial features linked to diets, populations, and diseases

Tomofuji Y, Kishikawa T, Maeda Y, Ogawa K, Otake-Kasamoto Y, Kawabata S, Nii T, Okuno T, Oguro-Igashira E, Kinoshita M, Takagaki M, Oyama N, Todo K, Yamamoto K, Sonehara K, Yagita M, Hosokawa A, Motooka D, Matsumoto Y, Matsuoka H, Yoshimura M, Ohshima S, Shinzaki S, Nakamura S, Iijima H, Inohara H, Kishima H, Takehara T, Mochizuki H, Takeda K, Kumanogoh A, Okada Y

Cell Genomics　Vol. 2　No. 12　p. 100219-100219　2022/12　Research paper (scientific journal)

A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors

Sonehara K, Kimura Y, Nakano Y, Ozawa T, Takahashi M, Suzuki K, Fujii T, Matsushita Y, Tomiyama A, Kishikawa T, Yamamoto K, Naito T, Suzuki T, Yamaguchi S, Miwa T, Sasaki H, Kitagawa M, Ohe N, Fukai J, Ogiwara H, Kawamura A, Miyawaki S, Matsuda F, Kiyokawa N, Ichimura K, Nishikawa R, Okada Y, Terashima K

Nature Communications　Vol. 13　No. 1　2022/12　Research paper (scientific journal)

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Winkler TW, Rasheed H, Teumer A, Gorski M, Rowan BX, Stanzick KJ, Thomas LF, Tin A, Hoppmann A, Chu AY, Tayo B, Thio CHL, Cusi D, Chai JF, Sieber KB, Horn K, Li M, Scholz M, Cocca M, Wuttke M, van der Most PJ, Yang Q, Ghasemi S, Nutile T, Li Y, Pontali G, Günther F, Dehghan A, Correa A, Parsa A, Feresin A, de Vries APJ, Zonderman AB, Smith AV, Oldehinkel AJ, De Grandi A, Rosenkranz AR, Franke A, Teren A, Metspalu A, Hicks AA, Morris AP, Tönjes A, Morgan A, Podgornaia AI, Peters A, Körner A, Mahajan A, Campbell A, Freedman BI, Spedicati B, Ponte B, Schöttker B, Brumpton B, Banas B, Krämer BK, Jung B, Åsvold BO, Smith BH, Ning B, Penninx BWJH, Vanderwerff BR, Psaty BM, Kammerer CM, Langefeld CD, Hayward C, Spracklen CN, Robinson-Cohen C, Hartman CA, Lindgren CM, Wang C, Sabanayagam C, Heng CK, Lanzani C, Khor CC, Cheng CY, Fuchsberger C, Gieger C, Shaffer CM, Schulz CA, Willer CJ, Chasman DI, Gudbjartsson DF, Ruggiero D, Toniolo D, Czamara D, Porteous DJ, Waterworth DM, Mascalzoni D, Mook-Kanamori DO, Reilly DF, Daw EW, Hofer E, Boerwinkle E, Salvi E, Bottinger EP, Tai ES, Catamo E, Rizzi F, Guo F, Rivadeneira F, Guilianini F, Sveinbjornsson G, Ehret G, Waeber G, Biino G, Girotto G, Pistis G, Nadkarni GN, Delgado GE, Montgomery GW, Snieder H, Campbell H, White HD, Gao H, Stringham HM, Schmidt H, Li H, Brenner H, Holm H, Kirsten H, Kramer H, Rudan I, Nolte IM, Tzoulaki I, Olafsson I, Martins J, Cook JP, Wilson JF, Halbritter J, Felix JF, Divers J, Kooner JS, Lee JJ, O'Connell J, Rotter JI, Liu J, Xu J, Thiery J, Ärnlöv J, Kuusisto J, Jakobsdottir J, Tremblay J, Chambers JC, Whitfield JB, Gaziano JM, Marten J, Coresh J, Jonas JB, Mychaleckyj JC, Christensen K, Eckardt KU, Mohlke KL, Endlich K, Dittrich K, Ryan KA, Rice KM, Taylor KD, Ho K, Nikus K, Matsuda K, Strauch K, Miliku K, Hveem K, Lind L, Wallentin L, Yerges-Armstrong LM, Raffield LM, Phillips LS, Launer LJ, Lyytikäinen LP, Lange LA, Citterio L, Klaric L, Ikram MA, Ising M, Kleber ME, Francescatto M, Concas MP, Ciullo M, Piratsu M, Orho-Melander M, Laakso M, Loeffler M, Perola M, de Borst MH, Gögele M, Bianca M, Lukas MA, Feitosa MF, Biggs ML, Wojczynski MK, Kavousi M, Kanai M, Akiyama M, Yasuda M, Nauck M, Waldenberger M, Chee ML, Chee ML, Boehnke M, Preuss MH, Stumvoll M, Province MA, Evans MK, O'Donoghue ML, Kubo M, Kähönen M, Kastarinen M, Nalls MA, Kuokkanen M, Ghanbari M, Bochud M, Josyula NS, Martin NG, Tan NYQ, Palmer ND, Pirastu N, Schupf N, Verweij N, Hutri-Kähönen N, Mononen N, Bansal N, Devuyst O, Melander O, Raitakari OT, Polasek O, Manunta P, Gasparini P, Mishra PP, Sulem P, Magnusson PKE, Elliott P, Ridker PM, Hamet P, Svensson PO, Joshi PK, Kovacs P, Pramstaller PP, Rossing P, Vollenweider P, van der Harst P, Dorajoo R, Sim RZH, Burkhardt R, Tao R, Noordam R, Mägi R, Schmidt R, de Mutsert R, Rueedi R, van Dam RM, Carroll RJ, Gansevoort RT, Loos RJF, Felicita SC, Sedaghat S, Padmanabhan S, Freitag-Wolf S, Pendergrass SA, Graham SE, Gordon SD, Hwang SJ, Kerr SM, Vaccargiu S, Patil SB, Hallan S, Bakker SJL, Lim SC, Lucae S, Vogelezang S, Bergmann S, Corre T, Ahluwalia TS, Lehtimäki T, Boutin TS, Meitinger T, Wong TY, Bergler T, Rabelink TJ, Esko T, Haller T, Thorsteinsdottir U, Völker U, Foo VHX, Salomaa V, Vitart V, Giedraitis V, Gudnason V, Jaddoe VWV, Huang W, Zhang W, Wei WB, Kiess W, März W, Koenig W, Lieb W, Gao X, Sim X, Wang YX, Friedlander Y, Tham YC, Kamatani Y, Okada Y, Milaneschi Y, Yu Z, Lifelines cohort study, DiscovEHR, MyCode study, VA Million Veteran Program, Stark KJ, Stefansson K, Böger CA, Hung AM, Kronenberg F, Köttgen A, Pattaro C, Heid IM

Communications Biology　Vol. 5　No. 1　p. 580-580　2022/12　Research paper (scientific journal)

Next-generation proteomics of serum extracellular vesicles combined with single-cell RNA sequencing identifies MACROH2A1 associated with refractory COVID-19

Kawasaki T, Takeda Y, Edahiro R, Shirai Y, Nogami-Itoh M, Matsuki T, Kida H, Enomoto T, Hara R, Noda Y, Adachi Y, Niitsu T, Amiya S, Yamaguchi Y, Murakami T, Kato Y, Morita T, Yoshimura H, Yamamoto M, Nakatsubo D, Miyake K, Shiroyama T, Hirata H, Adachi J, Okada Y, Kumanogoh A

Inflammation and Regeneration　Vol. 42　No. 1　p. 53-53　2022/11/30　Research paper (scientific journal)

Consecutive BNT162b2 mRNA vaccination induces short-term epigenetic memory in innate immune cells

Yamaguchi Y, Kato Y, Edahiro R, Søndergaard JN, Murakami T, Amiya S, Nameki S, Yoshimine Y, Morita T, Takeshima Y, Sakakibara S, Naito Y, Motooka D, Liu YC, Shirai Y, Okita Y, Fujimoto J, Hirata H, Takeda Y, Wing JB, Okuzaki D, Okada Y, Kumanogoh A

JCI Insight　Vol. 7　No. 22　2022/11/22　Research paper (scientific journal)

Impact of upper and lower respiratory symptoms on COVID-19 outcomes: a multicenter retrospective cohort study

Nakagawara K, Chubachi S, Namkoong H, Tanaka H, Lee H, Azekawa S, Otake S, Fukushima T, Morita A, Watase M, Sakurai K, Kusumoto T, Asakura T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Edahiro R, Murakami K, Sato Y, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K

Respiratory Research　Vol. 23　No. 1　2022/11/15　Research paper (scientific journal)

Detailed Analysis of the Impact of Clonal Hematopoiesis on the Risk of Severe COVID-19 Infection

Ryunosuke Saiki, Ho Namkoong, Ryuya Edahiro, Kyuto Sonehara, Qingbo S Wang, Takanori Hasegawa, Yukihide Momozawa, Hideki Makishima, Yasuhito Nannya, Nobuyuki Kakiuchi, Chikashi Terao, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Koichi Matsuda, Takayuki Morisaki, Yoshinori Murakami, Yoichiro Kamatani, Michiaki Kubo, Akinori Kimura, Seiya Imoto, Satoru Miyano, Takanori Kanai, Koich Fukunaga, Yukinori Okada, Seishi Ogawa

Blood　Vol. 140　No. Supplement 1　p. 5747-5748　2022/11/15　Research paper (scientific journal)

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

Ishigaki K, Sakaue S, Terao C, Luo Y, Sonehara K, Yamaguchi K, Amariuta T, Too CL, Laufer VA, Scott IC, Viatte S, Takahashi M, Ohmura K, Murasawa A, Hashimoto M, Ito H, Hammoudeh M, Emadi SA, Masri BK, Halabi H, Badsha H, Uthman IW, Wu X, Lin L, Li T, Plant D, Barton A, Orozco G, Verstappen SMM, Bowes J, MacGregor AJ, Honda S, Koido M, Tomizuka K, Kamatani Y, Tanaka H, Tanaka E, Suzuki A, Maeda Y, Yamamoto K, Miyawaki S, Xie G, Zhang J, Amos CI, Keystone E, Wolbink G, van der Horst-Bruinsma I, Cui J, Liao KP, Carroll RJ, Lee HS, Bang SY, Siminovitch KA, de Vries N, Alfredsson L, Rantapää-Dahlqvist S, Karlson EW, Bae SC, Kimberly RP, Edberg JC, Mariette X, Huizinga T, Dieudé P, Schneider M, Kerick M, Denny JC, BioBank Japan Projec, Matsuda K, Matsuo K, Mimori T, Matsuda F, Fujio K, Tanaka Y, Kumanogoh A, Traylor M, Lewis CM, Eyre S, Xu H, Saxena R, Arayssi T, Kochi Y, Ikari K, Harigai M, Gregersen PK, Yamamoto K, Louis Bridges S Jr, Padyukov L, Martin J, Klareskog L, Okada Y, Raychaudhuri S

Nature Genetics　Vol. 54　No. 11　p. 1640-1651　2022/11/04　Research paper (scientific journal)

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A, COVID, Host Genetics Initiative, DeCOI Hos, Genetics Group, GEN-COVID Multicenter Study (Italy, Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain, GenOMICC Consortium, Japan COVID, Task Force, Regeneron Genetics Center, Geschwind DH, Arteaga S, Stephens A, Butte MJ, Boutros PC, Yamaguchi TN, Tao S, Eng S, Sanders T, Tung PJ, Broudy ME, Pan Y, Gonzalez A, Chavan N, Johnson R, Pasaniuc B, Yaspan B, Smieszek S, Rivolta C, Bibert S, Bochud PY, Dabrowski M, Zawadzki P, Sypniewski M, Kaja E, Chariyavilaskul P, Nilaratanakul V, Hirankarn N, Shotelersuk V, Pongpanich M, Phokaew C, Chetruengchai W, Tokunaga K, Sugiyama M, Kawai Y, Hasegawa T, Naito T, Namkoong H, Edahiro R, Kimura A, Ogawa S, Kanai T, Fukunaga K, Okada Y, Imoto S, Miyano S, Mangul S, Abedalthagafi MS, Zeberg H, Grzymski JJ, Washington NL, Ossowski S, Ludwig KU, Schulte EC, Riess O, Moniuszko M, Kwasniewski M, Mbarek H, Ismail SI, Verma A, Goldstein DB, Kiryluk K, Renieri A, Ferreira MAR, Richards JB

PLOS Genetics　Vol. 18　No. 11　p. e1010367-e1010367　2022/11/03　Research paper (scientific journal)

Author Correction: LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury.

Nakamura S., Shigeyama S., Minami S., Shima T., Akayama S., Matsuda T., Esposito A., Napolitano G., Kuma A., Namba-Hamano T., Nakamura J., Yamamoto K., Sasai M., Tokumura A., Miyamoto M., Oe Y., Fujita T., Terawaki S., Takahashi A., Hamasaki M., Yamamoto M., Okada Y., Komatsu M., Nagai T., Takabatake Y., Xu H., Isaka Y., Ballabio A., Yoshimori T.

Nature cell biology　Vol. 24　No. 11　p. 1677-1679　2022/11　Research paper (scientific journal)

Common Germline Risk Variants Impact Somatic Alterations and Clinical Features across Cancers

Namba S, Saito Y, Kogure Y, Masuda T, Bondy ML, Gharahkhani P, Gockel I, Heider D, Hillmer A, Jankowski J, MacGregor S, Maj C, Melin B, Ostrom QT, Palles C, Schumacher J, Tomlinson I, Whiteman DC, Okada Y, Kataoka K

Cancer Research　Vol. 83　No. 1　p. 20-27　2022/10/26　Research paper (scientific journal)

A saturated map of common genetic variants associated with human height

Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, Anders U. Eliasen, Yunxuan Jiang, Sridharan Raghavan, Jenkai Miao, Joshua D. Arias, Sarah E. Graham, Ronen E. Mukamel, Cassandra N. Spracklen, Xianyong Yin, Shyh-Huei Chen, Teresa Ferreira, Heather H. Highland, Yingjie Ji, Tugce Karaderi, Kuang Lin, Kreete Lüll, Deborah E. Malden, Carolina Medina-Gomez, Moara Machado, Amy Moore, Sina Rüeger, Xueling Sim, Scott Vrieze, Tarunveer S. Ahluwalia, Masato Akiyama, Matthew A. Allison, Marcus Alvarez, Mette K. Andersen, Alireza Ani, Vivek Appadurai, Liubov Arbeeva, Seema Bhaskar, Lawrence F. Bielak, Sailalitha Bollepalli, Lori L. Bonnycastle, Jette Bork-Jensen, Jonathan P. Bradfield, Yuki Bradford, Peter S. Braund, Jennifer A. Brody, Kristoffer S. Burgdorf, Brian E. 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Haworth, Jing He, Nancy Heard-Costa, Prashantha Hebbar, George Hindy, Yuk-Lam A. Ho, Edith Hofer, Elizabeth Holliday, Katrin Horn, Whitney E. Hornsby, Jouke-Jan Hottenga, Hongyan Huang, Jie Huang, Alicia Huerta-Chagoya, Jennifer E. Huffman, Yi-Jen Hung, Shaofeng Huo, Mi Yeong Hwang, Hiroyuki Iha, Daisuke D. Ikeda, Masato Isono, Anne U. Jackson, Susanne Jäger, Iris E. Jansen, Ingegerd Johansson, Jost B. Jonas, Anna Jonsson, Torben Jørgensen, Ioanna-Panagiota Kalafati, Masahiro Kanai, Stavroula Kanoni, Line L. Kårhus, Anuradhani Kasturiratne, Tomohiro Katsuya, Takahisa Kawaguchi, Rachel L. Kember, Katherine A. Kentistou, Han-Na Kim, Young Jin Kim, Marcus E. Kleber, Maria J. Knol, Azra Kurbasic, Marie Lauzon, Phuong Le, Rodney Lea, Jong-Young Lee, Hampton L. Leonard, Shengchao A. Li, Xiaohui Li, Xiaoyin Li, Jingjing Liang, Honghuang Lin, Shih-Yi Lin, Jun Liu, Xueping Liu, Ken Sin Lo, Jirong Long, Laura Lores-Motta, Jian’an Luan, Valeriya Lyssenko, Leo-Pekka Lyytikäinen, Anubha Mahajan, Vasiliki Mamakou, Massimo Mangino, Ani Manichaikul, Jonathan Marten, Manuel Mattheisen, Laven Mavarani, Aaron F. McDaid, Karina Meidtner, Tori L. Melendez, Josep M. Mercader, Yuri Milaneschi, Jason E. Miller, Iona Y. Millwood, Pashupati P. Mishra, Ruth E. Mitchell, Line T. Møllehave, Anna Morgan, Soeren Mucha, Matthias Munz, Masahiro Nakatochi, Christopher P. Nelson, Maria Nethander, Chu Won Nho, Aneta A. Nielsen, Ilja M. Nolte, Suraj S. Nongmaithem, Raymond Noordam, Ioanna Ntalla, Teresa Nutile, Anita Pandit, Paraskevi Christofidou, Katri Pärna, Marc Pauper, Eva R. B. Petersen, Liselotte V. Petersen, Niina Pitkänen, Ozren Polašek, Alaitz Poveda, Michael H. Preuss, Saiju Pyarajan, Laura M. Raffield, Hiromi Rakugi, Julia Ramirez, Asif Rasheed, Dennis Raven, Nigel W. Rayner, Carlos Riveros, Rebecca Rohde, Daniela Ruggiero, Sanni E. Ruotsalainen, Kathleen A. Ryan, Maria Sabater-Lleal, Richa Saxena, Markus Scholz, Anoop Sendamarai, Botong Shen, Jingchunzi Shi, Jae Hun Shin, Carlo Sidore, Colleen M. Sitlani, Roderick C. Slieker, Roelof A. J. Smit, Albert V. Smith, Jennifer A. Smith, Laura J. Smyth, Lorraine Southam, Valgerdur Steinthorsdottir, Liang Sun, Fumihiko Takeuchi, Divya Sri Priyanka Tallapragada, Kent D. Taylor, Bamidele O. Tayo, Catherine Tcheandjieu, Natalie Terzikhan, Paola Tesolin, Alexander Teumer, Elizabeth Theusch, Deborah J. Thompson, Gudmar Thorleifsson, Paul R. H. J. Timmers, Stella Trompet, Constance Turman, Simona Vaccargiu, Sander W. van der Laan, Peter J. van der Most, Jan B. van Klinken, Jessica van Setten, Shefali S. Verma, Niek Verweij, Yogasudha Veturi, Carol A. Wang, Chaolong Wang, Lihua Wang, Zhe Wang, Helen R. Warren, Wen Bin Wei, Ananda R. Wickremasinghe, Matthias Wielscher, Kerri L. Wiggins, Bendik S. 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Huang, Wei Huang, Steven C. Hunt, Kristian Hveem, Elina Hyppönen, William G. Iacono, Sahoko Ichihara, M. Arfan Ikram, Carmen R. Isasi, Rebecca D. Jackson, Marjo-Riitta Jarvelin, Zi-Bing Jin, Karl-Heinz Jöckel, Peter K. Joshi, Pekka Jousilahti, J. Wouter Jukema, Mika Kähönen, Yoichiro Kamatani, Kui Dong Kang, Jaakko Kaprio, Sharon L. R. Kardia, Fredrik Karpe, Norihiro Kato, Frank Kee, Thorsten Kessler, Amit V. Khera, Chiea Chuen Khor, Lambertus A. L. M. Kiemeney, Bong-Jo Kim, Eung Kweon Kim, Hyung-Lae Kim, Paulus Kirchhof, Mika Kivimaki, Woon-Puay Koh, Heikki A. Koistinen, Genovefa D. Kolovou, Jaspal S. Kooner, Charles Kooperberg, Anna Köttgen, Peter Kovacs, Adriaan Kraaijeveld, Peter Kraft, Ronald M. Krauss, Meena Kumari, Zoltan Kutalik, Markku Laakso, Leslie A. Lange, Claudia Langenberg, Lenore J. Launer, Loic Le Marchand, Hyejin Lee, Nanette R. Lee, Terho Lehtimäki, Huaixing Li, Liming Li, Wolfgang Lieb, Xu Lin, Lars Lind, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Markus Loeffler, Barry London, Steven A. Lubitz, Stephen J. Lye, David A. Mackey, Reedik Mägi, Patrik K. E. Magnusson, Gregory M. Marcus, Pedro Marques Vidal, Nicholas G. Martin, Winfried März, Fumihiko Matsuda, Robert W. McGarrah, Matt McGue, Amy Jayne McKnight, Sarah E. Medland, Dan Mellström, Andres Metspalu, Braxton D. Mitchell, Paul Mitchell, Dennis O. Mook-Kanamori, Andrew D. Morris, Lorelei A. Mucci, Patricia B. Munroe, Mike A. Nalls, Saman Nazarian, Amanda E. Nelson, Matt J. Neville, Christopher Newton-Cheh, Christopher S. Nielsen, Markus M. Nöthen, Claes Ohlsson, Albertine J. Oldehinkel, Lorena Orozco, Katja Pahkala, Päivi Pajukanta, Colin N. A. Palmer, Esteban J. Parra, Cristian Pattaro, Oluf Pedersen, Craig E. Pennell, Brenda W. J. H. Penninx, Louis Perusse, Annette Peters, Patricia A. Peyser, David J. Porteous, Danielle Posthuma, Chris Power, Peter P. Pramstaller, Michael A. Province, Qibin Qi, Jia Qu, Daniel J. Rader, Olli T. Raitakari, Sarju Ralhan, Loukianos S. Rallidis, Dabeeru C. Rao, Susan Redline, Dermot F. Reilly, Alexander P. Reiner, Sang Youl Rhee, Paul M. Ridker, Michiel Rienstra, Samuli Ripatti, Marylyn D. Ritchie, Dan M. Roden, Frits R. Rosendaal, Jerome I. Rotter, Igor Rudan, Femke Rutters, Charumathi Sabanayagam, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Dharambir K. Sanghera, Naveed Sattar, Börge Schmidt, Helena Schmidt, Reinhold Schmidt, Matthias B. Schulze, Heribert Schunkert, Laura J. Scott, Rodney J. Scott, Peter Sever, Eric J. Shiroma, M. Benjamin Shoemaker, Xiao-Ou Shu, Eleanor M. Simonsick, Mario Sims, Jai Rup Singh, Andrew B. Singleton, Moritz F. Sinner, J. Gustav Smith, Harold Snieder, Tim D. Spector, Meir J. Stampfer, Klaus J. Stark, David P. Strachan, Leen M. ‘t Hart, Yasuharu Tabara, Hua Tang, Jean-Claude Tardif, Thangavel A. Thanaraj, Nicholas J. 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Nature　Vol. 610　No. 7933　p. 704-712　2022/10/12　Research paper (scientific journal)

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Wei Zhou, Masahiro Kanai, Kuan-Han H. Wu, Humaira Rasheed, Kristin Tsuo, Jibril B. Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia J. Partanen, Sinéad B. Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben M. Brumpton, Sameer Chavan, Tzu-Ting Chen, Michelle Daya, Yi Ding, Yen-Chen A. Feng, Lindsay A. Guare, Christopher R. Gignoux, Sarah E. Graham, Whitney E. Hornsby, Nathan Ingold, Said I. Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y. Millwood, Sonia Moreno-Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael H. Preuss, Chadi Saad, Shefali Setia-Verma, Unnur Thorsteinsdottir, Jasmina Uzunovic, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar M. Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H. de Bock, Scott M. Damrauer, Nicholas J. Douville, Sarah Finer, Lars G. Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Christopher J. Griffiths, Yu Guo, Karen A. Hunt, Alexander Ioannidis, Nomdo M. Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E. Marioni, Babak Moatamed, Marco A. Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas-Muñoz, Jonathan A. Shortt, Peter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C. Barnes, Marike Boezen, Zhengming Chen, Chia-Yen Chen, Judy Cho, George Davey Smith, Hilary K. Finucane, Lude Franke, Eric R. Gamazon, Andrea Ganna, Tom R. Gaunt, Tian Ge, Hailiang Huang, Jennifer Huffman, Nicholas Katsanis, Jukka T. Koskela, Clara Lajonchere, Matthew H. Law, Liming Li, Cecilia M. Lindgren, Ruth J.F. Loos, Stuart MacGregor, Koichi Matsuda, Catherine M. Olsen, David J. Porteous, Jordan A. Shavit, Harold Snieder, Tomohiro Takano, Richard C. Trembath, Judith M. Vonk, David C. Whiteman, Stephen J. Wicks, Cisca Wijmenga, John Wright, Jie Zheng, Xiang Zhou, Philip Awadalla, Michael Boehnke, Carlos D. Bustamante, Nancy J. Cox, Segun Fatumo, Daniel H. Geschwind, Caroline Hayward, Kristian Hveem, Eimear E. Kenny, Seunggeun Lee, Yen-Feng Lin, Hamdi Mbarek, Reedik Mägi, Hilary C. Martin, Sarah E. Medland, Yukinori Okada, Aarno V. Palotie, Bogdan Pasaniuc, Daniel J. Rader, Marylyn D. Ritchie, Serena Sanna, Jordan W. Smoller, Kari Stefansson, David A. van Heel, Robin G. Walters, Sebastian Zöllner, Alicia R. Martin, Cristen J. Willer, Mark J. Daly, Benjamin M. Neale

Cell Genomics　Vol. 2　No. 10　p. 100192-100192　2022/10　Research paper (scientific journal)

A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis

Namba S, Konuma T, Wu KH, Zhou W, Global Biobank Meta-analysis Initiative, Okada Y

Cell Genomics　Vol. 2　No. 10　p. 100190-100190　2022/10　Research paper (scientific journal)

Stroke genetics informs drug discovery and risk prediction across ancestries

Aniket Mishra, Rainer Malik, Tsuyoshi Hachiya, Tuuli Jürgenson, Shinichi Namba, Daniel C. Posner, Frederick K. Kamanu, Masaru Koido, Quentin Le Grand, Mingyang Shi, Yunye He, Marios K. Georgakis, Ilana Caro, Kristi Krebs, Yi-Ching Liaw, Felix C. Vaura, Kuang Lin, Bendik Slagsvold Winsvold, Vinodh Srinivasasainagendra, Livia Parodi, Hee-Joon Bae, Ganesh Chauhan, Michael R. Chong, Liisa Tomppo, Rufus Akinyemi, Gennady V. Roshchupkin, Naomi Habib, Yon Ho Jee, Jesper Qvist Thomassen, Vida Abedi, Jara Cárcel-Márquez, Marianne Nygaard, Hampton L. Leonard, Chaojie Yang, Ekaterina Yonova-Doing, Maria J. Knol, Adam J. Lewis, Renae L. Judy, Tetsuro Ago, Philippe Amouyel, Nicole D. Armstrong, Mark K. Bakker, Traci M. Bartz, David A. Bennett, Joshua C. Bis, Constance Bordes, Sigrid Børte, Anael Cain, Paul M. Ridker, Kelly Cho, Zhengming Chen, Carlos Cruchaga, John W. Cole, Phil L. de Jager, Rafael de Cid, Matthias Endres, Leslie E. Ferreira, Mirjam I. Geerlings, Natalie C. 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Nature　Vol. 611　No. 7934　p. 115-123　2022/09/30　Research paper (scientific journal)

Clinical significance of pre-diabetes, undiagnosed diabetes, and diagnosed diabetes on clinical outcomes in COVID-19: Integrative analysis from the Japan COVID-19 Task Force

Fukushima T, Chubachi S, Namkoong H, Asakura T, Tanaka H, Lee H, Azekawa S, Okada Y, Koike R, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

Diabetes, Obesity and Metabolism　Vol. 25　No. 1　p. 144-155　2022/09/26　Research paper (scientific journal)

Genetic footprints of assortative mating in the Japanese population

Yamamoto K, Sonehara K, Namba S, Konuma T, Masuko H, Miyawaki S, BioBank Japan Projec, Kamatani Y, Hizawa N, Ozono K, Yengo L, Okada Y

Nature Human Behaviour　Vol. 7　No. 1　p. 65-73　2022/09/22　Research paper (scientific journal)

Clinical clustering with prognostic implications in Japanese COVID-19 patients: report from Japan COVID-19 Task Force, a nation-wide consortium to investigate COVID-19 host genetics

Otake S, Chubachi S, Namkoong H, Nakagawara K, Tanaka H, Lee H, Morita A, Fukushima T, Watase M, Kusumoto T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Murakami K, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

BMC Infectious Diseases　Vol. 22　No. 1　2022/09/14　Research paper (scientific journal)

SLE stratification based on BAFF and IFN-I bioactivity for biologics and implications of BAFF produced by glomeruli in lupus nephritis

Itotagawa E, Tomofuji Y, Kato Y, Konaka H, Tsujimoto K, Park J, Nagira D, Hirayama T, Jo T, Hirano T, Morita T, Nishide M, Nishida S, Shima Y, Narazaki M, Okada Y, Takamatsu H, Kumanogoh A

Rheumatology　Vol. 62　No. 5　p. 1988-1997　2022/09/12　Research paper (scientific journal)

U-shaped association between abnormal serum uric acid levels and COVID-19 severity: reports from the Japan COVID-19 Task Force

Fukushima T, Chubachi S, Namkoong H, Otake S, Nakagawara K, Tanaka H, Lee H, Morita A, Watase M, Kusumoto T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Murakami K, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

International Journal of Infectious Diseases　Vol. 122　p. 747-754　2022/09　Research paper (scientific journal)

ETS1 governs pathological tissue-remodeling programs in disease-associated fibroblasts

Yan M, Komatsu N, Muro R, Huynh NC, Tomofuji Y, Okada Y, Suzuki HI, Takaba H, Kitazawa R, Kitazawa S, Pluemsakunthai W, Mitsui Y, Satoh T, Okamura T, Nitta T, Im SH, Kim CJ, Kollias G, Tanaka S, Okamoto K, Tsukasaki M, Takayanagi H

Nature Immunology　Vol. 23　No. 9　p. 1330-1341　2022/08/23　Research paper (scientific journal)

The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force

Wang QS, Edahiro R, Namkoong H, Hasegawa T, Shirai Y, Sonehara K, Tanaka H, Lee H, Saiki R, Hyugaji T, Shimizu E, Katayama K, Kanai M, Naito T, Sasa N, Yamamoto K, Kato Y, Morita T, Takahashi K, Harada N, Naito T, Hiki M, Matsushita Y, Takagi H, Ichikawa M, Nakamura A, Harada S, Sandhu Y, Kabata H, Masaki K, Kamata H, Ikemura S, Chubachi S, Okamori S, Terai H, Morita A, Asakura T, Sasaki J, Morisaki H, Uwamino Y, Nanki K, Uchida S, Uno S, Nishimura T, Ishiguro T, Isono T, Shibata S, Matsui Y, Hosoda C, Takano K, Nishida T, Kobayashi Y, Takaku Y, Takayanagi N, Ueda S, Tada A, Miyawaki M, Yamamoto M, Yoshida E, Hayashi R, Nagasaka T, Arai S, Kaneko Y, Sasaki K, Tagaya E, Kawana M, Arimura K, Takahashi K, Anzai T, Ito S, Endo A, Uchimura Y, Miyazaki Y, Honda T, Tateishi T, Tohda S, Ichimura N, Sonobe K, Sassa CT, Nakajima J, Nakano Y, Nakajima Y, Anan R, Arai R, Kurihara Y, Harada Y, Nishio K, Ueda T, Azuma M, Saito R, Sado T, Miyazaki Y, Sato R, Haruta Y, Nagasaki T, Yasui Y, Hasegawa Y, Mutoh Y, Kimura T, Sato T, Takei R, Hagimoto S, Noguchi Y, Yamano Y, Sasano H, Ota S, Nakamori Y, Yoshiya K, Saito F, Yoshihara T, Wada D, Iwamura H, Kanayama S, Maruyama S, Yoshiyama T, Ohta K, Kokuto H, Ogata H, Tanaka Y, Arakawa K, Shimoda M, Osawa T, Tateno H, Hase I, Yoshida S, Suzuki S, Kawada M, Horinouchi H, Saito F, Mitamura K, Hagihara M, Ochi J, Uchida T, Baba R, Arai D, Ogura T, Takahashi H, Hagiwara S, Nagao G, Konishi S, Nakachi I, Murakami K, Yamada M, Sugiura H, Sano H, Matsumoto S, Kimura N, Ono Y, Baba H, Suzuki Y, Nakayama S, Masuzawa K, Namba S, Shiroyama T, Noda Y, Niitsu T, Adachi Y, Enomoto T, Amiya S, Hara R, Yamaguchi Y, Murakami T, Kuge T, Matsumoto K, Yamamoto Y, Yamamoto M, Yoneda M, Tomono K, Kato K, Hirata H, Takeda Y, Koh H, Manabe T, Funatsu Y, Ito F, Fukui T, Shinozuka K, Kohashi S, Miyazaki M, Shoko T, Kojima M, Adachi T, Ishikawa M, Takahashi K, Inoue T, Hirano T, Kobayashi K, Takaoka H, Watanabe K, Miyazawa N, Kimura Y, Sado R, Sugimoto H, Kamiya A, Kuwahara N, Fujiwara A, Matsunaga T, Sato Y, Okada T, Hirai Y, Kawashima H, Narita A, Niwa K, Sekikawa Y, Nishi K, Nishitsuji M, Tani M, Suzuki J, Nakatsumi H, Ogura T, Kitamura H, Hagiwara E, Murohashi K, Okabayashi H, Mochimaru T, Nukaga S, Satomi R, Oyamada Y, Mori N, Baba T, Fukui Y, Odate M, Mashimo S, Makino Y, Yagi K, Hashiguchi M, Kagyo J, Shiomi T, Fuke S, Saito H, Tsuchida T, Fujitani S, Takita M, Morikawa D, Yoshida T, Izumo T, Inomata M, Kuse N, Awano N, Tone M, Ito A, Nakamura Y, Hoshino K, Maruyama J, Ishikura H, Takata T, Odani T, Amishima M, Hattori T, Shichinohe Y, Kagaya T, Kita T, Ohta K, Sakagami S, Koshida K, Hayashi K, Shimizu T, Kozu Y, Hiranuma H, Gon Y, Izumi N, Nagata K, Ueda K, Taki R, Hanada S, Kawamura K, Ichikado K, Nishiyama K, Muranaka H, Nakamura K, Hashimoto N, Wakahara K, Koji S, Omote N, Ando A, Kodama N, Kaneyama Y, Maeda S, Kuraki T, Matsumoto T, Yokote K, Nakada TA, Abe R, Oshima T, Shimada T, Harada M, Takahashi T, Ono H, Sakurai T, Shibusawa T, Kimizuka Y, Kawana A, Sano T, Watanabe C, Suematsu R, Sageshima H, Yoshifuji A, Ito K, Takahashi S, Ishioka K, Nakamura M, Masuda M, Wakabayashi A, Watanabe H, Ueda S, Nishikawa M, Chihara Y, Takeuchi M, Onoi K, Shinozuka J, Sueyoshi A, Nagasaki Y, Okamoto M, Ishihara S, Shimo M, Tokunaga Y, Kusaka Y, Ohba T, Isogai S, Ogawa A, Inoue T, Fukuyama S, Eriguchi Y, Yonekawa A, Kan-O K, Matsumoto K, Kanaoka K, Ihara S, Komuta K, Inoue Y, Chiba S, Yamagata K, Hiramatsu Y, Kai H, Asano K, Oguma T, Ito Y, Hashimoto S, Yamasaki M, Kasamatsu Y, Komase Y, Hida N, Tsuburai T, Oyama B, Takada M, Kanda H, Kitagawa Y, Fukuta T, Miyake T, Yoshida S, Ogura S, Abe S, Kono Y, Togashi Y, Takoi H, Kikuchi R, Ogawa S, Ogata T, Ishihara S, Kanehiro A, Ozaki S, Fuchimoto Y, Wada S, Fujimoto N, Nishiyama K, Terashima M, Beppu S, Yoshida K, Narumoto O, Nagai H, Ooshima N, Motegi M, Umeda A, Miyagawa K, Shimada H, Endo M, Ohira Y, Watanabe M, Inoue S, Igarashi A, Sato M, Sagara H, Tanaka A, Ohta S, Kimura T, Shibata Y, Tanino Y, Nikaido T, Minemura H, Sato Y, Yamada Y, Hashino T, Shinoki M, Iwagoe H, Takahashi H, Fujii K, Kishi H, Kanai M, Imamura T, Yamashita T, Yatomi M, Maeno T, Hayashi S, Takahashi M, Kuramochi M, Kamimaki I, Tominaga Y, Ishii T, Utsugi M, Ono A, Tanaka T, Kashiwada T, Fujita K, Saito Y, Seike M, Watanabe H, Matsuse H, Kodaka N, Nakano C, Oshio T, Hirouchi T, Makino S, Egi M, Omae Y, Nannya Y, Ueno T, Takano T, Katayama K, Ai M, Kumanogoh A, Sato T, Hasegawa N, Tokunaga K, Ishii M, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Okada Y

Nature Communications　Vol. 13　No. 1　2022/08/22　Research paper (scientific journal)

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Ruotsalainen SE, Surakka I, Mars N, Karjalainen J, Kurki M, Kanai M, Krebs K, Graham S, Mishra PP, Mishra BH, Sinisalo J, Palta P, Lehtimäki T, Raitakari O, Estonian Biobank, Research Team, Milani L, Biobank Japan, Projec, Okada Y, FinnGen, Palotie A, Widen E, Daly MJ, Ripatti S

Communications Biology　Vol. 5　No. 1　p. 802-802　2022/08/17　Research paper (scientific journal)

Effects of mild obesity on outcomes in Japanese patients with COVID-19: a nationwide consortium to investigate COVID-19 host genetics

Lee H, Chubachi S, Namkoong H, Tanaka H, Otake S, Nakagawara K, Morita A, Fukushima T, Watase M, Kusumoto T, Masaki K, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Murakami K, Okada Y, Koike R, Kitagawa Y, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

Nutrition & Diabetes　Vol. 12　No. 1　p. 38-38　2022/08/09　Research paper (scientific journal)

DOCK2 is involved in the host genetics and biology of severe COVID-19

Namkoong H, Edahiro R, Takano T, Nishihara H, Shirai Y, Sonehara K, Tanaka H, Azekawa S, Mikami Y, Lee H, Hasegawa T, Okudela K, Okuzaki D, Motooka D, Kanai M, Naito T, Yamamoto K, Wang QS, Saiki R, Ishihara R, Matsubara Y, Hamamoto J, Hayashi H, Yoshimura Y, Tachikawa N, Yanagita E, Hyugaji T, Shimizu E, Katayama K, Kato Y, Morita T, Takahashi K, Harada N, Naito T, Hiki M, Matsushita Y, Takagi H, Aoki R, Nakamura A, Harada S, Sasano H, Kabata H, Masaki K, Kamata H, Ikemura S, Chubachi S, Okamori S, Terai H, Morita A, Asakura T, Sasaki J, Morisaki H, Uwamino Y, Nanki K, Uchida S, Uno S, Nishimura T, Ishiguro T, Isono T, Shibata S, Matsui Y, Hosoda C, Takano K, Nishida T, Kobayashi Y, Takaku Y, Takayanagi N, Ueda S, Tada A, Miyawaki M, Yamamoto M, Yoshida E, Hayashi R, Nagasaka T, Arai S, Kaneko Y, Sasaki K, Tagaya E, Kawana M, Arimura K, Takahashi K, Anzai T, Ito S, Endo A, Uchimura Y, Miyazaki Y, Honda T, Tateishi T, Tohda S, Ichimura N, Sonobe K, Sassa CT, Nakajima J, Nakano Y, 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Nature　Vol. 609　No. 7928　p. 754-760　2022/08/08　Research paper (scientific journal)

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.

Shweta Ramdas, Jonathan Judd, Sarah E Graham, Stavroula Kanoni, Yuxuan Wang, Ida Surakka, Brandon Wenz, Shoa L Clarke, Alessandra Chesi, Andrew Wells, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W Winkler, Adam E Locke, Eirini Marouli, Greg J M Zajac, Kuan-Han H Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M Brumpton, Humaira Rasheed, Aki S Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J Kullo, Akira Narita, Jun Takayama, Hilary C Martin, Karen A Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E Miller, Archie Campbell, Kuang Lin, Iona Y Millwood, Asif Rasheed, George Hindy, Jessica D Faul, Wei Zhao, David R Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R Brown, Weihua Zhang, Ketian Yu, Ellen M Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian'an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R Wood, Yingji Ji, Zishan Gao, Simon Haworth, Ruth E Mitchell, Jin Fang Chai, Mette Aadahl, Anne A Bjerregaard, Jie Yao, Ani Manichaikul, Wen-Jane Lee, Chao Agnes Hsiung, Helen R Warren, Julia Ramirez, Jette Bork-Jensen, Line L Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T Møllehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Sebastian Schönherr, Lukas Forer, Markus Scholz, Tessel E Galesloot, Jonathan P Bradfield, Sanni E Ruotsalainen, E Warwick Daw, Joseph M Zmuda, Jonathan S Mitchell, Christian 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Kraft, Nicholas G Martin, John B Whitfield, Shahid Abbas, Danish Saleheen, Robin G Walters, Michael V Holmes, Corri Black, Blair H Smith, Aris Baras, Anne E Justice, Julie E Buring, Paul M Ridker, Daniel I Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A van Heel, Richard C Trembath, Wei-Qi Wei, Gail P Jarvik, Bahram Namjou, M Geoffrey Hayes, Marylyn D Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, Y Eugene Chen, Yuk-Lam Ho, Julie A Lynch, Philip S Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J O'Donnell, John M Gaziano, Peter Wilson, Karen L Mohlke, Timothy M Frayling, Joel N Hirschhorn, Sekar Kathiresan, Michael Boehnke, Struan Grant, Pradeep Natarajan, Yan V Sun, Andrew P Morris, Panos Deloukas, Gina Peloso, Themistocles L Assimes, Cristen J Willer, Xiang Zhu, Christopher D Brown

American journal of human genetics　Vol. 109　No. 8　p. 1366-1387　2022/08/04　Research paper (scientific journal)

Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic component

Shirai Y, Nakanishi Y, Suzuki A, Konaka H, Nishikawa R, Sonehara K, Namba S, Tanaka H, Masuda T, Yaga M, Satoh S, Izumi M, Mizuno Y, Jo T, Maeda Y, Nii T, Oguro-Igashira E, Biobank Japan Projec, Morisaki T, Kamatani Y, Nakayamada S, Nishigori C, Tanaka Y, Takeda Y, Yamamoto K, Kumanogoh A, Okada Y

Annals of the Rheumatic Diseases　Vol. 81　No. 9　p. 1301-1312　2022/06/26　Research paper (scientific journal)

Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study

Dofuku S, Sonehara K, Miyawaki S, Sakaue S, Imai H, Shimizu M, Hongo H, Shinya Y, Ohara K, Teranishi Y, Okano A, Ono H, Nakatomi H, Teraoka A, Yamamoto K, Maeda Y, Nii T, Kishikawa T, Suzuki K, Hirata J, Takahashi M, Matsuda K, Kumanogoh A, Matsuda F, Okada Y, Saito N

Translational Stroke Research　Vol. 14　No. 3　p. 322-333　2022/06/14　Research paper (scientific journal)

Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population

Sonehara K, Sakaue S, Maeda Y, Hirata J, Kishikawa T, Yamamoto K, Matsuoka H, Yoshimura M, Nii T, Ohshima S, Kumanogoh A, Okada Y

Human Molecular Genetics　Vol. 31　No. 11　p. 1806-1820　2022/06/04　Research paper (scientific journal)

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Gerard Temprano‐Sagrera, Colleen M. Sitlani, William P. Bone, Miguel Martin‐Bornez, Benjamin F. Voight, Alanna C. Morrison, Scott M. Damrauer, Paul S. de Vries, Nicholas L. Smith, Maria Sabater‐Lleal, Abbas Dehghan, Adam S Heath, Alanna C Morrison, Alex P Reiner, Andrew Johnson, Anne Richmond, Annette Peters, Astrid van Hylckama Vlieg, Barbara McKnight, Bruce M Psaty, Caroline Hayward, Cavin Ward‐Caviness, Christopher O’Donnell, Daniel Chasman, David P Strachan, David A Tregouet, Dennis Mook‐Kanamori, Dipender Gill, Florian Thibord, Folkert W Asselbergs, Frank W.G. 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Journal of Thrombosis and Haemostasis　Vol. 20　No. 6　p. 1331-1349　2022/06　Research paper (scientific journal)

Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang YF, Amano K, Park DJ, Yang W, Tada Y, Lau YL, Yamaji K, Zhu Z, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Japanese Research Committee on, Idiopathic Osteonecrosis of the Femoral Head, Yamamoto K, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC

Annals of the Rheumatic Diseases　Vol. 81　No. 9　p. annrheumdis-2022　2022/05/24　Research paper (scientific journal)

Lysophosphatidylserines derived from microbiota in Crohn’s disease elicit pathological Th1 response

Otake-Kasamoto Y, Kayama H, Kishikawa T, Shinzaki S, Tashiro T, Amano T, Tani M, Yoshihara T, Li B, Tani H, Liu L, Hayashi A, Okuzaki D, Motooka D, Nakamura S, Okada Y, Iijima H, Takeda K, Takehara T

Journal of Experimental Medicine　Vol. 219　No. 7　2022/05/24　Research paper (scientific journal)

Cell type-specific abnormalities of central nervous system in myotonic dystrophy type 1

Nakamori M, Shimizu H, Ogawa K, Hasuike Y, Nakajima T, Sakurai H, Araki T, Okada Y, Kakita A, Mochizuki H

Brain Communications　Vol. 4　No. 3　2022/05/02　Research paper (scientific journal)

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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Nature Genetics　Vol. 54　No. 5　p. 560-572　2022/05　Research paper (scientific journal)

Response to: ‘Comment on ‘Metagenome-wide association study of gut microbiome revealed novel aetiology of rheumatoid arthritis in the Japanese population’ by Kishikawa et al.’ by Kitamura et al

Kishikawa T, Maeda Y, Nii T, Okada Y

Annals of the Rheumatic Diseases　Vol. 81　No. 5　p. e72-e72　2022/05　Research paper (scientific journal)

Genome-wide risk prediction of common diseases across ancestries in one million people

Mars N, Kerminen S, Feng YCA, Kanai M, Lall K, Thomas LF, Skogholt AH, Parolo PdB, The Biobank Japan, Project, FinnGen, Neale BM, Smoller JW, Gabrielsen ME, Hveem K, Magi R, Matsuda K, Okada Y, Pirinen M, Palotie A, Ganna A, Martin AR, Ripatti S

Cell Genomics　Vol. 2　No. 4　p. 100118-100118　2022/04　Research paper (scientific journal)

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

Weissbrod O, Kanai M, Shi H, Gazal S, Peyrot WJ, Khera AV, Okada Y, Biobank Japan Project, Martin AR, Finucane HK, Price AL

Nature Genetics　Vol. 54　No. 4　p. 450-458　2022/04　Research paper (scientific journal)

An evolving hypothesis in autoimmune disease genetics

Okada Y

Nature Reviews Genetics　Vol. 23　No. 8　p. 458-459　2022/03/31　Research paper (scientific journal)

Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus

Suetsugu H, Kim K, Yamamoto T, Bang SY, Sakamoto Y, Shin JM, Sugano N, Kim JS, Mukai M, Lee YK, Ohmura K, Park DJ, Takahashi D, Ahn GY, Karino K, Kwon YC, Miyamura T, Kim J, Nakamura J, Motomura G, Kuroda T, Niiro H, Miyamoto T, Takeuchi T, Ikari K, Amano K, Tada Y, Yamaji K, Shimizu M, Atsumi T, Seki T, Tanaka Y, Kubo T, Hisada R, Yoshioka T, Yamazaki M, Kabata T, Kajino T, Ohta Y, Okawa T, Naito Y, Kaneuji A, Yasunaga Y, Ohzono K, Tomizuka K, Koido M, Matsuda K, Okada Y, Suzuki A, Kim BJ, Kochi Y, Lee HS, Ikegawa S, Bae SC, Terao C

Human Molecular Genetics　Vol. 31　No. 7　p. 1082-1095　2022/03/31　Research paper (scientific journal)

Coffee Consumption Reduces Gout Risk Independently of Serum Uric Acid Levels: Mendelian Randomization Analyses Across Ancestry Populations

Shirai Y, Nakayama A, Kawamura Y, Toyoda Y, Nakatochi M, Shimizu S, Shinomiya N, Okada Y, Matsuo H

ACR Open Rheumatology　Vol. 4　No. 6　p. 534-539　2022/03/29　Research paper (scientific journal)

Decoding the diversity of killer immunoglobulin-like receptors by deep sequencing and a high-resolution imputation method

Sakaue S, Hosomichi K, Hirata J, Nakaoka H, Yamazaki K, Yawata M, Yawata N, Naito T, Umeno J, Kawaguchi T, Matsui T, Motoya S, Suzuki Y, Inoko H, Tajima A, Morisaki T, Matsuda K, Kamatani Y, Yamamoto K, Inoue I, Okada Y

Cell Genomics　Vol. 2　No. 3　p. 100101-100101　2022/03　Research paper (scientific journal)

Age-associated decline of MondoA drives cellular senescence through impaired autophagy and mitochondrial homeostasis

Yamamoto-Imoto, H, Minami, S, Shioda, T, Yamashita, Y, Sakai, S, Maeda, S, Yamamoto, T, Oki, S, Takashima, M, Yamamuro, T, Yanagawa, K, Edahiro, R, Iwatani, M, So, M, Tokumura, A, Abe, T, Imamura, R, Nonomura, N, Okada, Y, Ayer, D.E, Ogawa, H, Hara, E, Takabatake, Y, Isaka, Y, Nakamura, S, Yoshimori, T

Cell Reports　Vol. 38　No. 9　p. 110444-110444　2022/03　Research paper (scientific journal)

piRNA/PIWI Protein Complex as a Potential Biomarker in Sporadic Amyotrophic Lateral Sclerosis

Abdelhamid RF, Ogawa K, Beck G, Ikenaka K, Takeuchi E, Yasumizu Y, Jinno J, Kimura Y, Baba K, Nagai Y, Okada Y, Saito Y, Murayama S, Mochizuki H, Nagano

Molecular Neurobiology　Vol. 59　No. 3　p. 1693-1705　2022/03　Research paper (scientific journal)

A meta-analysis of genome-wide association studies using Japanese and Taiwanese has revealed novel loci associated with gout susceptibility

Chang SJ, Toyoda Y, Kawamura Y, Nakamura T, Nakatochi M, Nakayama A, Liao WT, Shimizu S, Takada T, Takeuchi K, Wakai K, Shi Y, Shinomiya N, Chen CJ, Li C, Okada Y, Ichida K, Matsuo H, for Japan Gout, Genomics Consortium, Japan Gout

Human Cell　Vol. 35　No. 2　p. 767-770　2022/03　Research paper (scientific journal)

Dysbiosis of Gut Microbiome Is Associated With Rupture of Cerebral Aneurysms

Kawabata S, Takagaki M, Nakamura H, Oki H, Motooka D, Nakamura S, Nishida T, Terada E, Izutsu N, Takenaka T, Matsui Y, Yamada S, Asai K, Tateishi A, Umehara T, Yano Y, Bamba Y, Matsumoto K, Kishikawa T, Okada Y, Iida T, Kishima H

Stroke　Vol. 53　No. 3　p. 895-903　2022/03　Research paper (scientific journal)

Response to: ‘Can sexual dimorphism in rheumatoid arthritis be attributed to the different abundance of Gardnerella?’ by Liu et al

Kishikawa T, Maeda Y, Nii T, Okada Y

Annals of the Rheumatic Diseases　Vol. 81　No. 3　p. e37-e37　2022/03　Research paper (scientific journal)

Whole gut virome analysis of 476 Japanese revealed a link between phage and autoimmune disease

Tomofuji Y, Kishikawa T, Maeda Y, Ogawa K, Nii T, Okuno T, Oguro-Igashira E, Kinoshita M, Yamamoto K, Sonehara K, Yagita M, Hosokawa A, Motooka D, Matsumoto Y, Matsuoka H, Yoshimura M, Ohshima S, Nakamura S, Inohara H, Mochizuki H, Takeda K, Kumanogoh A, Okada Y

Annals of the Rheumatic Diseases　Vol. 81　No. 2　p. 278-288　2022/02　Research paper (scientific journal)

OMARU: a robust and multifaceted pipeline for metagenome-wide association study

Kishikawa T, Tomofuji Y, Inohara H, Okada Y

NAR Genomics and Bioinformatics　Vol. 4　No. 1　2022/01/13　Research paper (scientific journal)

Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease

Zheng J, Zhang Y, Rasheed H, Walker V, Sugawara Y, Li J, Leng Y, Elsworth B, Wootton RE, Fang S, Yang Q, Burgess S, Haycock PC, Borges MC, Cho Y, Carnegie R, Howell A, Robinson J, Thomas LF, Brumpton BM, Hveem K, Hallan S, Franceschini N, Morris AP, Köttgen A, Pattaro C, Wuttke M, Yamamoto M, Kashihara N, Akiyama M, Kanai M, Matsuda K, Kamatani Y, Okada Y, Walters R, Millwood IY, Chen Z, Davey Smith G, Barbour S, Yu C, Åsvold BO, Zhang H, Gaunt TR

International Journal of Epidemiology　Vol. 50　No. 6　p. 1995-2010　2022/01/06　Research paper (scientific journal)

Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging

Paul R. H. J. Timmers, Evgeny S. Tiys, Saori Sakaue, Masato Akiyama, Tuomo T. J. Kiiskinen, Wei Zhou, Shih-Jen Hwang, Chen Yao, Yoichiro Kamatani, Wei Zhou, Joris Deelen, Daniel Levy, Andrea Ganna, Yoichiro Kamatani, Yukinori Okada, Peter K. Joshi, James F. Wilson, Yakov A. Tsepilov

Nature Aging　2022/01　Research paper (scientific journal)

Genetics and functional genetics of autoimmune diseases

Okada Y, Yamamoto K

Seminars in Immunopathology　Vol. 44　No. 1　p. 1-2　2022/01　Research paper (scientific journal)

HLA imputation and its application to genetic and molecular fine-mapping of the MHC region in autoimmune diseases

Naito T, Okada Y

Seminars in Immunopathology　Vol. 44　No. 1　p. 15-28　2022/01　Research paper (scientific journal)

Anti–Double‐Stranded DNA Antibodies Recognize DNA Presented on HLA Class II Molecules of Systemic Lupus Erythematosus Risk Alleles

Tsuji H, Ohmura K, Jin H, Naito R, Arase N, Kohyama M, Suenaga T, Sakakibara S, Kochi Y, Okada Y, Yamamoto K, Kikutani H, Morinobu A, Mimori T, Arase H

Arthritis & Rheumatology　Vol. 74　No. 1　p. 105-111　2022/01　Research paper (scientific journal)

Mapping the human genetic architecture of COVID-19

COVID-19 Host Genetics Initiative

Nature　Vol. 600　No. 7889　p. 472-477　2021/12/16　Research paper (scientific journal)

The power of genetic diversity in genome-wide association studies of lipids

Sarah E. Graham, Shoa L. Clarke, Kuan-Han H. Wu, Stavroula Kanoni, Greg J. M. Zajac, Shweta Ramdas, Ida Surakka, Ioanna Ntalla, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Mi Yeong Hwang, Sohee Han, Akira Narita, Ananyo Choudhury, Amy R. Bentley, Kenneth Ekoru, Anurag Verma, Bhavi Trivedi, Hilary C. Martin, Karen A. Hunt, Qin Hui, Derek Klarin, Xiang Zhu, Gudmar Thorleifsson, Anna Helgadottir, Daniel F. Gudbjartsson, Hilma Holm, Isleifur Olafsson, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M. Brumpton, Humaira Rasheed, Sanni E. Ruotsalainen, Aki S. Havulinna, Yogasudha Veturi, QiPing Feng, Elisabeth A. Rosenthal, Todd Lingren, Jennifer Allen Pacheco, Sarah A. Pendergrass, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, George Hindy, Asif Rasheed, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian’an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Gonneke Willemsen, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Jie Yao, Ani Manichaikul, Helen R. Warren, Julia Ramirez, Jette Bork-Jensen, Line L. Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Carlo Sidore, Edoardo Fiorillo, Aaron F. McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Møllehave, Betina H. Thuesen, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, E. Warwick Daw, Joseph M. Zmuda, Jonathan S. 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Nature　Vol. 600　No. 7890　p. 675-679　2021/12　Research paper (scientific journal)

Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network

Mathys Grapotte, Manu Saraswat, Chloé Bessière, Christophe Menichelli, Jordan A. Ramilowski, Jessica Severin, Yoshihide Hayashizaki, Masayoshi Itoh, Michihira Tagami, Mitsuyoshi Murata, Miki Kojima-Ishiyama, Shohei Noma, Shuhei Noguchi, Takeya Kasukawa, Akira Hasegawa, Harukazu Suzuki, Hiromi Nishiyori-Sueki, Martin C. Frith, Imad Abugessaisa, Stuart Aitken, Bronwen L. Aken, Intikhab Alam, Tanvir Alam, Rami Alasiri, Ahmad M. N. Alhendi, Hamid Alinejad-Rokny, Mariano J. Alvarez, Robin Andersson, Takahiro Arakawa, Marito Araki, Taly Arbel, John Archer, Alan L. Archibald, Erik Arner, Peter Arner, Kiyoshi Asai, Haitham Ashoor, Gaby Astrom, Magda Babina, J. Kenneth Baillie, Vladimir B. Bajic, Archana Bajpai, Sarah Baker, Richard M. Baldarelli, Adam Balic, Mukesh Bansal, Arsen O. Batagov, Serafim Batzoglou, Anthony G. Beckhouse, Antonio P. Beltrami, Carlo A. Beltrami, Nicolas Bertin, Sharmodeep Bhattacharya, Peter J. Bickel, Judith A. 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Nature Communications　Vol. 12　No. 1　2021/12　Research paper (scientific journal)

Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Luo Y, Kanai M, Choi W, Li X, Sakaue S, Yamamoto K, Ogawa K, Gutierrez-Arcelus M, Gregersen PK, Stuart PE, Elder JT, Forer L, Schönherr S, Fuchsberger C, Smith AV, Fellay J, Carrington M, Haas DW, Guo X, Palmer ND, Chen YI, Rotter JI, Taylor KD, Rich SS, Correa A, Wilson JG, Kathiresan S, Cho MH, Metspalu A, Esko T, Okada Y, Han B, NHLBI Trans-Omics for, Precision Medicine, TOPMed) Consortium, McLaren PJ, Raychaudhuri S

Nature Genetics　Vol. 53　No. 12　p. 1722-1722　2021/12　Research paper (scientific journal)

Polygenic risk scores for prediction of breast cancer risk in Asian populations

Ho WK, Tai MC, Dennis J, Shu X, Li J, Ho PJ, Millwood IY, Lin K, Jee YH, Lee SH, Mavaddat N, Bolla MK, Wang Q, Michailidou K, Long J, Wijaya EA, Hassan T, Rahmat K, Tan VKM, Tan BKT, Tan SM, Tan EY, Lim SH, Gao YT, Zheng Y, Kang D, Choi JY, Han W, Lee HB, Kubo M, Okada Y, Namba S, BioBank Japan Project, Park SK, Kim SW, Shen CY, Wu PE, Park B, Muir KR, Lophatananon A, Wu AH, Tseng CC, Matsuo K, Ito H, Kwong A, Chan TL, John EM, Kurian AW, Iwasaki M, Yamaji T, Kweon SS, Aronson KJ, Murphy RA, Koh WP, Khor CC, Yuan JM, Dorajoo R, Walters RG, Chen Z, Li L, Lv J, Jung KJ, Kraft P, Pharoah PDB, Dunning AM, Simard J, Shu XO, Yip CH, Taib NAM, Antoniou AC, Zheng W, Hartman M, Easton DF, Teo SH

Genetics in Medicine　Vol. 24　No. 3　p. 586-600　2021/12　Research paper (scientific journal)

Clinical Characteristics of Patients with Coronavirus Disease (COVID-19): Preliminary Baseline Report of Japan COVID-19 Task Force, a Nationwide Consortium to Investigate Host Genetics of COVID-19

Tanaka H, Lee H, Morita A, Namkoong H, Chubachi S, Kabata H, Kamata H, Ishii M, Hasegawa N, Harada N, Ueda T, Ueda S, Ishiguro T, Arimura K, Saito F, Yoshiyama T, Nakano Y, Mutoh Y, Suzuki Y, Murakami K, Okada Y, Koike R, Kitagawa Y, Tokunaga K, Kimura A, Imoto S, Miyano S, Ogawa S, Kanai T, Fukunaga K, Japan COVID, Task Force

International Journal of Infectious Diseases　Vol. 113　p. 74-81　2021/12　Research paper (scientific journal)

Determining the immune environment of cutaneous T-cell lymphoma lesions through the assessment of lesional blood drops

Torii K, Okada Y, Morita A

Scientific Reports　Vol. 11　No. 1　p. 19629-19629　2021/12　Research paper (scientific journal)

Metagenome-wide association study revealed disease-specific landscape of the gut microbiome of systemic lupus erythematosus in Japanese

Tomofuji Y., Maeda Y., Oguro-Igashira E., Kishikawa T., Yamamoto K., Sonehara K., Motooka D., Matsumoto Y., Matsuoka H., Yoshimura M., Yagita M., Nii T., Ohshima S., Nakamura S., Inohara H., Takeda K., Kumanogoh A., Okada Y.

Annals of the Rheumatic Diseases　Vol. 80　No. 12　p. 1575-1583　2021/12　Research paper (scientific journal)

Statistical genetics and polygenic risk score for precision medicine

Konuma T, Okada Y

Inflammation and Regeneration　Vol. 41　No. 1　2021/12　Research paper (scientific journal)

Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes

Hosoe J, Suzuki K, Miya F, Kato T, Tsunoda T, Okada Y, Horikoshi M, Shojima N, Yamauchi T, Kadowaki T

Human Genome Variation　Vol. 8　No. 1　p. 25-25　2021/12　Research paper (scientific journal)

Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

Wang QS, Kelley DR, Ulirsch J, Kanai M, Sadhuka S, Cui R, Albors C, Cheng N, Okada Y, Biobank Japan, Project, Aguet F, Ardlie KG, MacArthur DG, Finucane HK

Nature Communications　Vol. 12　No. 1　2021/12　Research paper (scientific journal)

Population-specific causal disease effect sizes in functionally important regions impacted by selection

Shi H, Gazal S, Kanai M, Koch EM, Schoech AP, Siewert KM, Kim SS, Luo Y, Amariuta T, Huang H, Okada Y, Raychaudhuri S, Sunyaev SR, Price AL

Nature Communications　Vol. 12　No. 1　2021/12　Research paper (scientific journal)

A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes

Naito T, Suzuki K, Hirata J, Kamatani Y, Matsuda K, Toda T, Okada Y

Nature Communications　Vol. 12　No. 1　2021/12　Research paper (scientific journal)

A massive effort links protein-coding gene variants to health

Okada Y, Wang QS

Nature　Vol. 599　No. 7886　p. 561-563　2021/11/25　Research paper (scientific journal)

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Polygenic Risk Score Task Force of the International Common Disease Alliance

Nature Medicine　Vol. 27　No. 11　p. 1876-1884　2021/11　Research paper (scientific journal)

Trans-ethnic fine-mapping of the MHC region on Parkinson's disease identified shared genetic features associated with the risk

Naito T., Satake W., Ogawa K., Suzuki K., Hirata J., Foo J., Tan E., Okada Y., Toda T.

Journal of the Neurological Sciences　Vol. 429　p. 117854-117854　2021/10　Research paper (scientific journal)

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Luo Y, Kanai M, Choi W, Li X, Sakaue S, Yamamoto K, Ogawa K, Gutierrez-Arcelus M, Gregersen PK, Stuart PE, Elder JT, Forer L, Schönherr S, Fuchsberger C, Smith AV, Fellay J, Carrington M, Haas DW, Guo X, Palmer ND, Chen YI, Rotter JI, Taylor KD, Rich SS, Correa A, Wilson JG, Kathiresan S, Cho MH, Metspalu A, Esko T, Okada Y, Han B, NHLBI Trans-Omics for, Precision Medicine, TOPMed) Consortium, McLaren PJ, Raychaudhuri S

Nature Genetics　Vol. 53　No. 10　p. 1504-1516　2021/10　Research paper (scientific journal)

A cross-population atlas of genetic associations for 220 human phenotypes

Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, FinnGen, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y

Nature Genetics　Vol. 53　No. 10　p. 1415-1424　2021/10　Research paper (scientific journal)

A recurrent homozygous ACTN2 variant associated with core myopathy

Inoue M, Noguchi S, Sonehara K, Nakamura-Shindo K, Taniguchi A, Kajikawa H, Nakamura H, Ishikawa K, Ogawa M, Hayashi S, Okada Y, Kuru S, Iida A, Nishino I

Acta Neuropathologica　Vol. 142　No. 4　p. 785-788　2021/10　Research paper (scientific journal)

Genome-wide association studies

Uffelmann E., Huang QQ, Munung NS, de Vries J., Okada Y., Martin AR, Martin HC, Lappalainen T., PosthumaD.

Nature Reviews Methods Primers　Vol. 1　No. 1　2021/08/26　Research paper (scientific journal)

Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants

Hosoe J, Kawashima Sonoyama Y, Miya F, Kadowaki H, Suzuki K, Kato T, Matsuzawa F, Aikawa SI, Okada Y, Tsunoda T, Hanaki K, Kanzaki S, Shojima N, Yamauchi T, Kadowaki T

Diabetes　Vol. 70　No. 8　p. 1874-1884　2021/08　Research paper (scientific journal)

Trans‐Ethnic Fine‐Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease

Naito T, Satake W, Ogawa K, Suzuki K, Hirata J, Foo JN, Tan EK, Toda T, Okada Y

Movement Disorders　Vol. 36　No. 8　p. 1805-1814　2021/08　Research paper (scientific journal)

Lupus susceptibility region containing CDKN1B rs34330 mechanistically influences expression and function of multiple target genes, also linked to proliferation and apoptosis

Singh B, Maiti GP, Zhou X, Fazel-Najafabadi M, Bae SC, Sun C, Terao C, Okada Y, Chua KH, Kochi Y, Guthridge JM, Zhang H, Weirauch M, James JA, Harley JB, Varshney GK, Looger LL, Nath SK

Arthritis & Rheumatology　Vol. 73　No. 12　p. 2303-2313　2021/05/13　Research paper (scientific journal)

An X chromosome-wide meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated with serum urate

Nakatochi M, Toyoda Y, Kanai M, Nakayama A, Kawamura Y, Hishida A, Mikami H, Matsuo K, Takezaki T, Momozawa Y, Biobank Japan Project, Kamatani Y, Ichihara S, Shinomiya N, Yokota M, Wakai K, Okada Y, Matsuo H, Japan Uric Acid, Genomics Consortium, Japan Urate

Rheumatology　Vol. 60　No. 9　p. 4430-4432　2021/05/04　Research paper (scientific journal)

Publisher Correction: Clinical use of current polygenic risk scores may exacerbate health disparities (Nature Genetics, (2019), 51, 4, (584-591), 10.1038/s41588-019-0379-x)

Martin AR, Kanai M., Kamatani Y., Okada Y., Neale BM, Daly MJ

Nature Genetics　Vol. 53　No. 5　2021/05/01　Research paper (scientific journal)

Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases

Ota M., Nagafuchi Y., Hatano H., Ishigaki K., Terao C., Takeshima Y., Yanaoka H., Kobayashi S., Okubo M., Shirai H., Sugimori Y., Maeda J., Nakano M., Yamada S., Yoshida R., Tsuchiya H., Tsuchida Y., Akizuki S., Yoshifuji H., Ohmura K., Mimori T., Yoshida K., Kurosaka D., Okada M., Setoguchi K., Kaneko H., Ban N., Yabuki N., Matsuki K., Mutoh H., Oyama S., Okazaki M., Tsunoda H., Iwasaki Y., Sumitomo S., Shoda H., Kochi Y., Okada Y., Yamamoto K., Okamura T., Fujio K.

Cell　Vol. 184　No. 11　p. 3006-3021.e17　2021/05　Research paper (scientific journal)

Genetic analyses identify widespread sex-differential participation bias

Pirastu N, Cordioli M, Nandakumar P, Mignogna G, Abdellaoui A, Hollis B, Kanai M, Rajagopal VM, Parolo PDB, Baya N, Carey CE, Karjalainen J, Als TD, Van der Zee MD, Day FR, Ong KK, FinnGen Study, andMe Research Team, iPSYCH Consortium, Morisaki T, de Geus E, Bellocco R, Okada Y, Børglum AD, Joshi P, Auton A, Hinds D, Neale BM, Walters RK, Nivard MG, Perry JRB, Ganna A

Nature Genetics　Vol. 53　No. 5　p. 663-671　2021/04/22　Research paper (scientific journal)

Model-based assessment of replicability for genome-wide association meta-analysis

Daniel McGuire, Yu Jiang, Mengzhen Liu, J. Dylan Weissenkampen, Scott Eckert, Lina Yang, Fang Chen, Mengzhen Liu, Yu Jiang, Robbee Wedow, Yue Li, David M. Brazel, Fang Chen, Gargi Datta, Jose Davila-Velderrain, Chao Tian, Xiaowei Zhan, H. éléne Choquet, Anna R. Docherty, Jessica D. Faul, Johanna R. Foerster, Lars G. Fritsche, Maiken Elvestad Gabrielsen, Scott D. Gordon, Jeffrey Haessler, Jouke-Jan Hottenga, Hongyan Huang, Seon-Kyeong Jang, Philip R. Jansen, Yueh Ling, Reedik Ma ̈gi, Nana Matoba, George McMahon, Antonella Mulas, Valeria Orru, Teemu Palviainen, Anita Pandit, Gunnar W. Reginsson, Anne Heidi Skogholt, Jennifer A. Smith, Amy E. Taylor, Constance Turman, Gonneke Willemsen, Hannah Young, Kendra A. Young, Gregory J. M. Zajac, Wei Zhao, Wei Zhou, Gyda Bjornsdottir, Jason D. Boardman, Michael Boehnke, Dorret I. Boomsma, Chu Chen, Francesco Cucca, Gareth E. Davies, Charles B. Eaton, Marissa A. Ehringer, Tonu Esko, Edoardo Fiorillo, Nathan A. Gillespie, Daniel F. Gudbjartsson, Toomas Haller, Kathleen Mullan Harris, Andrew C. Heath, John K. Hewitt, Ian B. Hickie, John E. Hokanson, Christian J. Hopfer, David J. Hunter, William G. Iacono, Eric O. Johnson, Yoichiro Kamatani, Sharon L. R. Kardia, Matthew C. Keller, Manolis Kellis, Charles Kooperberg, Peter Kraft, Kenneth S. Krauter, Markku Laakso, Penelope A. Lind, Anu Loukola, Sharon M. Lutz, Pamela A. F. Madden, Nicholas G. Martin, Matt McGue, Matthew B. McQueen, Sarah E. Medland, Andres Metspalu, Karen L. Mohlke, Jonas B. Nielsen, Yukinori Okada, Ulrike Peters, Tinca J. C. Polderman, Danielle Posthuma, Alexander P. Reiner, John P. Rice, Eric Rimm, Richard J. Rose, Valgerdur Runarsdottir, Michael C. Stallings, Alena Stanˇca ́kova, Hreinn Stefansson, Khanh K. Thai, Hilary A. Tindle, Thorarinn Tyrfingsson, Tamara L. Wall, David R. Weir, Constance Weisner, John B. Whitfield, Bendik Slagsvold Winsvold, Jie Yin, Luisa Zuccolo, Laura J. Bierut, Kristian Hveem, James J. Lee, Marcus R. Munafo, Nancy L. Saccone, Cristen J. Willer, Marilyn C. Cornelis, Sean P. David, David Hinds, Eric Jorgenson, Jaakko Kaprio, Jerry A. Stitzel, Kari Stefansson, Thorgeir E. Thorgeirsson, Goncalo Abecasis, Dajiang J. Liu, Scott Vrieze, Arthur Berg, Scott Vrieze, Bibo Jiang, Qunhua Li, Dajiang J. Liu, GWAS and Sequencing Consortium of Alcohol and Nicotine Use (GSCAN)

Nature Communications　Vol. 12　No. 1　2021/03/30　Research paper (scientific journal)

Genomics-driven drug discovery based on disease-susceptibility genes

Sonehara K., Okada Y.

Inflammation and Regeneration　Vol. 41　No. 1　p. ---　2021/03/10　Research paper (scientific journal)

Large-scale plasma-metabolome analysis identifies potential biomarkers of psoriasis and its clinical subtypes

Kishikawa T, Arase N, Tsuji S, Maeda Y, Nii T, Hirata J, Suzuki K, Yamamoto K, Masuda T, Ogawa K, Ohshima S, Inohara H, Kumanogoh A, Fujimoto M, Okada Y

Journal of Dermatological Science　Vol. 102　No. 2　p. 78-84　2021/03　Research paper (scientific journal)

Transcriptome network analyses in human coronavirus infections suggest a rational use of immunomodulatory drugs for COVID-19 therapy

Wong HS, Guo CL, Lin GH, Lee KY, Okada Y, Chang WC

Genomics　Vol. 113　No. 2　p. 564-575　2021/03　Research paper (scientific journal)

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

Atkinson EG, Maihofer AX, Kanai M, Martin AR, Karczewski KJ, Santoro ML, Ulirsch JC, Kamatani Y, Okada Y, Finucane HK, Koenen KC, Nievergelt CM, Daly MJ, Neale BM

Nature Genetics　Vol. 53　No. 2　p. 195-204　2021/02　Research paper (scientific journal)

Elucidation of disease etiology by trans-layer omics analysis

Shirai Y, Okada

Inflammation and Regeneration　Vol. 41　No. 1　2021/02　Research paper (scientific journal)

Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates

Konuma T., Ogawa K., Okada Y.

Human Molecular Genetics　Vol. 30　No. 3-4　p. 294-304　2021/02/01　Research paper (scientific journal)

Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis

Sakaue S, Yamaguchi E, Inoue Y, Takahashi M, Hirata J, Suzuki K, Ito S, Arai T, Hirose M, Tanino Y, Nikaido T, Ichiwata T, Ohkouchi S, Hirano T, Takada T, Miyawaki S, Dofuku S, Maeda Y, Nii T, Kishikawa T, Ogawa K, Masuda T, Yamamoto K, Sonehara K, Tazawa R, Morimoto K, Takaki M, Konno S, Suzuki M, Tomii K, Nakagawa A, Handa T, Tanizawa K, Ishii H, Ishida M, Kato T, Takeda N, Yokomura K, Matsui T, Watanabe M, Inoue H, Imaizumi K, Goto Y, Kida H, Fujisawa T, Suda T, Yamada T, Satake Y, Ibata H, Hizawa N, Mochizuki H, Kumanogoh A, Matsuda F, Nakata K, Hirota T, Tamari M, Okada Y

Nature Communications　Vol. 12　No. 1　p. 1032-1032　2021/02　Research paper (scientific journal)

Increased levels of plasma nucleotides in patients with rheumatoid arthritis

Kishikawa T, Maeda Y, Nii T, Arase N, Hirata J, Suzuki K, Yamamoto K, Masuda T, Ogawa K, Tsuji S, Matsushita M, Matsuoka H, Yoshimura M, Tsunoda S, Ohshima S, Narazaki M, Ogata A, Saeki Y, Inohara H, Kumanogoh A, Takeda K, Okada Y

International Immunology　Vol. 33　No. 2　p. 119-124　2021/01/28　Research paper (scientific journal)

Two decades after Human Genome Project: do large-genetic studies lead to path of the genomic medicine of complex diseases?

Kamatani Y, Okada Y

Journal of Human Genetics　Vol. 66　No. 1　p. 1-1　2021/01　Research paper (scientific journal)

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

Lin BM, Grinde KE, Brody JA, Breeze CE, Raffield LM, Mychaleckyj JC, Thornton TA, Perry JA, Baier LJ, de Las Fuentes L, Guo X, Heavner BD, Hanson RL, Hung YJ, Qian H, Hsiung CA, Hwang SJ, Irvin MR, Jain D, Kelly TN, Kobes S, Lange L, Lash JP, Li Y, Liu X, Mi X, Musani SK, Papanicolaou GJ, Parsa A, Reiner AP, Salimi S, Sheu WH, Shuldiner AR, Taylor KD, Smith AV, Smith JA, Tin A, Vaidya D, Wallace RB, Yamamoto K, Sakaue S, Matsuda K, Kamatani Y, Momozawa Y, Yanek LR, Young BA, Zhao W, Okada Y, Abecasis G, Psaty BM, Arnett DK, Boerwinkle E, Cai J, Yii-Der Chen I, Correa A, Cupples LA, He J, Kardia SL, Kooperberg C, Mathias RA, Mitchell BD, Nickerson DA, Turner ST, Ramachandran VS, Rotter JI, Levy D, Kramer HJ, Köttgen A, Nhlbi Trans-Omics For, Precision Medicine TOPMed Consortium, TOPMed Kidney, Working Group, Rich SS, Lin DY, Browning SR, Franceschini N

EBioMedicine　Vol. 63　p. 103157-103157　2021/01　Research paper (scientific journal)

A Metagenome-Wide Association Study of Gut Microbiome in Patients With Multiple Sclerosis Revealed Novel Disease Pathology

Kishikawa T., Ogawa K., Motooka D., Hosokawa A., Kinoshita M., Suzuki K., Yamamoto K., Masuda T., Matsumoto Y., Nii T., Maeda Y., Nakamura S., Inohara H., Mochizuki H., Okuno T., Okada Y.

Frontiers in Cellular and Infection Microbiology　Vol. 10　p. 585973-585973　2020/12/11　Research paper (scientific journal)

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Laurynenka V, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang Y, Amano K, Park DJ, Yang W, Tada Y, Yamaji K, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Japanese Research Committee on, Idiopathic Osteonecrosis of the Femoral Head, Kottyan LC, Weirauch MT, Parameswaran S, Eswar S, Salim H, Chen X, Yamamoto K, Harley JB, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC

Annals of the Rheumatic Diseases　Vol. 80　No. 5　p. 632-640　2020/12/03　Research paper (scientific journal)

Cerebral small vessel disease genomics and its implications across the lifespan

Sargurupremraj M, Suzuki H, Jian X, Sarnowski C, Evans TE, Bis JC, Eiriksdottir G, Sakaue S, Terzikhan N, Habes M, Zhao W, Armstrong NJ, Hofer E, Yanek LR, Hagenaars SP, Kumar RB, van den Akker EB, McWhirter RE, Trompet S, Mishra A, Saba Y, Satizabal CL, Beaudet G, Petit L, Tsuchida A, Zago L, Schilling S, Sigurdsson S, Gottesman RF, Lewis CE, Aggarwal NT, Lopez OL, Smith JA, Valdés Hernández MC, van der Grond J, Wright MJ, Knol MJ, Dörr M, Thomson RJ, Bordes C, Le Grand Q, Duperron MG, Smith AV, Knopman DS, Schreiner PJ, Evans DA, Rotter JI, Beiser AS, Maniega SM, Beekman M, Trollor J, Stott DJ, Vernooij MW, Wittfeld K, Niessen WJ, Soumaré A, Boerwinkle E, Sidney S, Turner ST, Davies G, Thalamuthu A, Völker U, van Buchem MA, Bryan RN, Dupuis J, Bastin ME, Ames D, Teumer A, Amouyel P, Kwok JB, Bülow R, Deary IJ, Schofield PR, Brodaty H, Jiang J, Tabara Y, Setoh K, Miyamoto S, Yoshida K, Nagata M, Kamatani Y, Matsuda F, Psaty BM, Bennett DA, De Jager PL, Mosley TH, Sachdev PS, Schmidt R, Warren HR, Evangelou E, Trégouët DA, International Network against Thrombosis (INVENT) Consortium, International Headache Genomics Consortium (IHGC, Ikram MA, Wen W, DeCarli C, Srikanth VK, Jukema JW, Slagboom EP, Kardia SLR, Okada Y, Mazoyer B, Wardlaw JM, Nyquist PA, Mather KA, Grabe HJ, Schmidt H, Van Duijn CM, Gudnason V, Longstreth WT Jr, Launer LJ, Lathrop M, Seshadri S, Tzourio C, Adams HH, Matthews PM, Fornage M, Debette S

Nature Communications　Vol. 11　No. 1　p. 6285-6285　2020/12　Research paper (scientific journal)

A Mendelian randomization study identified obesity as a causal risk factor of uterine endometrial cancer in Japanese

Masuda T, Ogawa K, Kamatani Y, Murakami Y, Kimura T, Okada

Cancer Science　Vol. 111　No. 12　p. 4646-4651　2020/12　Research paper (scientific journal)

Obelisc: an identical-by-descent mapping tool based on SNP streak

Sonehara K, Okada Y

Bioinformatics　Vol. 36　No. 24　p. 5567-70　2020/11/02　Research paper (scientific journal)

Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells

Shinohara T, Urayama KY, Watanabe A, Akahane K, Goi K, Huang M, Kagami K, Abe M, Sugita K, Okada Y, Goto H, Minegishi M, Iwamoto S, Inukai T

Journal of Cellular and Molecular Medicine　Vol. 24　No. 22　p. 12920-12932　2020/11　Research paper (scientific journal)

Fine Mapping of the Major Histocompatibility Complex Region and Association of the HLA-B*52:01 Allele With Cervical Cancer in Japanese Women

Masuda T, Ito H, Hirata J, Sakaue S, Ueda Y, Kimura T, Takeuchi F, Murakami Y, Matsuda K, Matsuo K, Okada Y

JAMA Netw Open　Vol. 3　No. 10　p. e2023248-e2023248　2020/10/29　Research paper (scientific journal)

A global atlas of genetic associations of 220 deep phenotypes

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, Seizo Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, Kaoru Ito FinnGen, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo, Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A. Rivas, Mark J. Daly, Koichi Matsuda, Yukinori Okada

2020/10/27

LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury

Nakamura S, Shigeyama S, Minami S, Shima T, Akayama S, Matsuda T, Esposito A, Napolitano G, Kuma A, Namba-Hamano T, Nakamura J, Yamamoto K, Sasai M, Tokumura A, Miyamoto M, Oe Y, Fujita T, Terawaki S, Takahashi A, Hamasaki M, Yamamoto M, Okada Y, Komatsu M, Nagai T, Takabatake Y, Xu H, Isaka Y, Ballabio A, Yoshimori T

Nature Cell Biology　Vol. 22　No. 10　p. 1252-1263　2020/10　Research paper (scientific journal)

Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.

Shirai Y, Honda S, Ikari K, Kanai M, Takeda Y, Kamatani Y, Morisaki T, Tanaka E, Kumanogoh A, Harigai M, Okada Y

Annals of the Rheumatic Diseases　Vol. 79　No. 10　p. 1305-1309　2020/10　Research paper (scientific journal)

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Hosoe J, Miya F, Kadowaki H, Fujiwara T, Suzuki K, Kato T, Waki H, Sasako T, Aizu K, Yamamura N, Sasaki F, Kurano M, Hara K, Tanaka M, Ishiura H, Tsuji S, Honda K, Yoshimura J, Morishita S, Matsuzawa F, Aikawa SI, Boroevich KA, Nangaku M, Okada Y, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T

Diabetes Research and Clinical Practice　Vol. 169　p. 108461-108461　2020/09/22　Research paper (scientific journal)

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.

Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB, VA Million Veteran Program, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G

Cell　Vol. 182　No. 5　p. 1198-1213　2020/09/03　Research paper (scientific journal)

The Polygenic and Monogenic Basis of Blood Traits and Diseases.

Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K, Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S, VA Million Veteran Program, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N

Cell　Vol. 182　No. 5　p. 1214-1231　2020/09/03　Research paper (scientific journal)

Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan.

Chen M, Sidore C, Akiyama M, Ishigaki K, Kamatani Y, Schlessinger D, Cucca F, Okada Y, Chiang CWK

American Journal of Human Genetics　Vol. 107　No. 1　p. 60-71　2020/07/02　Research paper (scientific journal)

The current landscape of psoriasis genetics in 2020.

Ogawa K, Okada Y

J Dermatol Sci　Vol. 99　No. 1　p. 2-8　2020/07　Research paper (scientific journal)

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.

Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y

Nature Genetics　Vol. 52　No. 7　p. 669-679　2020/07　Research paper (scientific journal)

Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer.

Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Le Marchand L, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K

Nature Communications　Vol. 11　No. 1　p. 3175-3175　2020/06/24　Research paper (scientific journal)

Regulatory T Cell-Specific Epigenomic Region Variants Are a Key Determinant of Susceptibility to Common Autoimmune Diseases.

Ohkura N, Yasumizu Y, Kitagawa Y, Tanaka A, Nakamura Y, Motooka D, Nakamura S, Okada Y, Sakaguchi S

Immunity　Vol. 52　No. 6　p. 1119-1132　2020/06/16　Research paper (scientific journal)

Identification of type 2 diabetes loci in 433,540 East Asian individuals.

Spracklen CN, Horikoshi M, Kim YJ, Lin K, Bragg F, Moon S, Suzuki K, Tam CHT, Tabara Y, Kwak SH, Takeuchi F, Long J, Lim VJY, Chai JF, Chen CH, Nakatochi M, Yao J, Choi HS, Iyengar AK, Perrin HJ, Brotman SM, van de Bunt M, Gloyn AL, Below JE, Boehnke M, Bowden DW, Chambers JC, Mahajan A, McCarthy MI, Ng MCY, Petty LE, Zhang W, Morris AP, Adair LS, Akiyama M, Bian Z, Chan JCN, Chang LC, Chee ML, Chen YI, Chen YT, Chen Z, Chuang LM, Du S, Gordon-Larsen P, Gross M, Guo X, Guo Y, Han S, Howard AG, Huang W, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Isono M, Jang HM, Jiang G, Jonas JB, Kamatani Y, Katsuya T, Kawaguchi T, Khor CC, Kohara K, Lee MS, Lee NR, Li L, Liu J, Luk AO, Lv J, Okada Y, Pereira MA, Sabanayagam C, Shi J, Shin DM, So WY, Takahashi A, Tomlinson B, Tsai FJ, van Dam RM, Xiang YB, Yamamoto K, Yamauchi T, Yoon K, Yu C, Yuan JM, Zhang L, Zheng W, Igase M, Cho YS, Rotter JI, Wang YX, Sheu WHH, Yokota M, Wu JY, Cheng CY, Wong TY, Shu XO, Kato N, Park KS, Tai ES, Matsuda F, Koh WP, Ma RCW, Maeda S, Millwood IY, Lee J, Kadowaki T, Walters RG, Kim BJ, Mohlke KL, Sim X

Nature　Vol. 582　No. 7811　p. 240-245　2020/06　Research paper (scientific journal)

Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population.

Yasumizu Y, Sakaue S, Konuma T, Suzuki K, Matsuda K, Murakami Y, Kubo M, Palamara PF, Kamatani Y, Okada Y

Molecular Biology and Evolution　Vol. 37　No. 5　p. 1306-1316　2020/05/01　Research paper (scientific journal)

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients

Nakayama A., Nakatochi M., Kawamura Y., Yamamoto K., Nakaoka H., Shimizu S., Higashino T., Koyama T., Hishida A., Kuriki K., Watanabe M., Shimizu T., Ooyama K., Ooyama H., Nagase M., Hidaka Y., Matsui D., Tamura T., Nishiyama T., Shimanoe C., Katsuura-Kamano S., Takashima N., Shirai Y., Kawaguchi M., Takao M., Sugiyama R., Takada Y., Nakamura T., Nakashima H., Tsunoda M., Danjoh I., Hozawa A., Hosomichi K., Toyoda Y., Kubota Y., Takada T., Suzuki H., Stiburkova B., Major TJ, Merriman TR, Kuriyama N., Mikami H., Takezaki T., Matsuo K., Suzuki S., Hosoya T., Kamatani Y., Kubo M., Ichida K., Wakai K., Inoue I., Okada Y., Shinomiya N., Matsuo H.

Annals of the Rheumatic Diseases　Vol. 79　No. 5　p. 657-665　2020/05　Research paper (scientific journal)

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.

Boocock J, Leask M, Okada Y, Asian Genetic, Epidemiology Network, AGEN) Consortium, Matsuo H, Kawamura Y, Shi Y, Li C, Mount DB, Mandal AK, Wang W, Cadzow M, Gosling AL, Major TJ, Horsfield JA, Choi HK, Fadason T, O'Sullivan J, Stahl EA, Merriman TR

Human Molecular Genetics　Vol. 29　No. 6　p. 923-943　2020/04/15　Research paper (scientific journal)

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan.

Sakaue S, Kanai M, Karjalainen J, Akiyama M, Kurki M, Matoba N, Takahashi A, Hirata M, Kubo M, Matsuda K, Murakami Y, FinnGen, Daly MJ, Kamatani Y, Okada Y

Nature Medicine　Vol. 26　No. 4　p. 542-548　2020/04　Research paper (scientific journal)

Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.

Sakaue S, Hirata J, Kanai M, Suzuki K, Akiyama M, Lai Too C, Arayssi T, Hammoudeh M, Al Emadi S, Masri BK, Halabi H, Badsha H, Uthman IW, Saxena R, Padyukov L, Hirata M, Matsuda K, Murakami Y, Kamatani Y, Okada Y

Nature Communications　Vol. 11　No. 1　p. 1569-1569　2020/03/26　Research paper (scientific journal)

Author Correction: Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M, Suzuki S, Matsui D, Naito M, Yamaji T, Iwasaki M, Sawada N, Tanno K, Sasaki M, Hozawa A, Minegishi N, Wakai K, Tsugane S, Shimizu A, Yamamoto M, Okada Y, Murakami Y, Kubo M, Kamatani Y

Nat Commun　Vol. 11　No. 1　p. 1350-1350　2020/03/09

Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.

Yamamoto K, Sakaue S, Matsuda K, Murakami Y, Kamatani Y, Ozono K, Momozawa Y, Okada Y

Communications Biology　Vol. 3　No. 1　p. 104-104　2020/03/05　Research paper (scientific journal)

Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis.

Amariuta T, Luo Y, Knevel R, Okada Y, Raychaudhuri S

Immunol Rev　Vol. 294　No. 1　p. 188-204　2020/03　Research paper (scientific journal)

GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits.

Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Murakami Y, Kubo M, Kamatani Y, Okada Y

Nature Human Behaviour　Vol. 4　No. 3　p. 308-316　2020/03　Research paper (scientific journal)

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Yamamoto K, Kubota T, Takeyari S, Kitaoka T, Miyata K, Nakano Y, Nakayama H, Ohata Y, Yanagi K, Kaname T, Okada Y, Ozono K

American Journal of Medical Genetics Part A　Vol. 182　No. 3　p. 454-460　2020/03　Research paper (scientific journal)

Metagenome-wide association study of gut microbiome revealed novel aetiology of rheumatoid arthritis in the Japanese population.

Kishikawa T, Maeda Y, Nii T, Motooka D, Matsumoto Y, Matsushita M, Matsuoka H, Yoshimura M, Kawada S, Teshigawara S, Oguro E, Okita Y, Kawamoto K, Higa S, Hirano T, Narazaki M, Ogata A, Saeki Y, Nakamura S, Inohara H, Kumanogoh A, Takeda K, Okada Y

Annals of the Rheumatic Diseases　Vol. 79　No. 1　p. 103-111　2020/01　Research paper (scientific journal)

GWAS of five gynecologic diseases and cross-trait analysis in Japanese.

Masuda T, Low SK, Akiyama M, Hirata M, Ueda Y, Matsuda K, Kimura T, Murakami Y, Kubo M, Kamatani Y, Okada Y

European Journal of Human Genetics　Vol. 28　No. 1　p. 95-107　2020/01　Research paper (scientific journal)

Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects.

Mizuno A, Okada Y

European Journal of Human Genetics　Vol. 27　No. 11　p. 1745-1756　2019/11　Research paper (scientific journal)

Polygenic burden in focal and generalized epilepsies.

Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM, Epi, Consortium, Lal D

Brain : a journal of neurology　Vol. 142　No. 11　p. 3473-3481　2019/11/01　Research paper (scientific journal)

Shared genetic factors and their causality in autoimmune diseases

Yamamoto K, Okada Y

Annals of the Rheumatic Diseases　Vol. 78　No. 11　p. 1449-1451　2019/11　Research paper (scientific journal)

HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy.

Noguchi E, Akiyama M, Yagami A, Hirota T, Okada Y, Kato Z, Kishikawa R, Fukutomi Y, Hide M, Morita E, Aihara M, Hiragun M, Chinuki Y, Okabe T, Ito A, Adachi A, Fukunaga A, Kubota Y, Aoki T, Aoki Y, Nishioka K, Adachi T, Kanazawa N, Miyazawa H, Sakai H, Kozuka T, Kitamura H, Hashizume H, Kanegane C, Masuda K, Sugiyama K, Tokuda R, Furuta J, Higashimoto I, Kato A, Seishima M, Tajiri A, Tomura A, Taniguchi H, Kojima H, Tanaka H, Sakai A, Morii W, Nakamura M, Kamatani Y, Takahashi A, Kubo M, Tamari M, Saito H, Matsunaga K

The Journal of allergy and clinical immunology　Vol. 144　No. 5　p. 1354-1363　2019/11　Research paper (scientific journal)

Associations of autozygosity with a broad range of human phenotypes.

Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, Zhang W, Medina-Gomez C, Karlsson R, Bao Y, Bartz TM, Baumbach C, Biino G, Bixley MJ, Brumat M, Chai JF, Corre T, Cousminer DL, Dekker AM, Eccles DA, van Eijk KR, Fuchsberger C, Gao H, Germain M, Gordon SD, de Haan HG, Harris SE, Hofer E, Huerta-Chagoya A, Igartua C, Jansen IE, Jia Y, Kacprowski T, Karlsson T, Kleber ME, Li SA, Li-Gao R, Mahajan A, Matsuda K, Meidtner K, Meng W, Montasser ME, van der Most PJ, Munz M, Nutile T, Palviainen T, Prasad G, Prasad RB, Priyanka TDS, Rizzi F, Salvi E, Sapkota BR, Shriner D, Skotte L, Smart MC, Smith AV, van der Spek A, Spracklen CN, Strawbridge RJ, Tajuddin SM, Trompet S, Turman C, Verweij N, Viberti C, Wang L, Warren HR, Wootton RE, Yanek LR, Yao J, Yousri NA, Zhao W, Adeyemo AA, Afaq S, Aguilar-Salinas CA, Akiyama M, Albert ML, Allison MA, Alver M, Aung T, Azizi F, Bentley AR, Boeing H, Boerwinkle E, Borja JB, de Borst GJ, Bottinger EP, Broer L, Campbell H, Chanock S, Chee ML, Chen G, Chen YI, Chen Z, Chiu YF, Cocca M, Collins FS, Concas MP, Corley J, Cugliari G, van Dam RM, Damulina A, Daneshpour MS, Day FR, Delgado GE, Dhana K, Doney ASF, Dörr M, Doumatey AP, Dzimiri N, Ebenesersdóttir SS, Elliott J, Elliott P, Ewert R, Felix JF, Fischer K, Freedman BI, Girotto G, Goel A, Gögele M, Goodarzi MO, Graff M, Granot-Hershkovitz E, Grodstein F, Guarrera S, Gudbjartsson DF, Guity K, Gunnarsson B, Guo Y, Hagenaars SP, Haiman CA, Halevy A, Harris TB, Hedayati M, van Heel DA, Hirata M, Höfer I, Hsiung CA, Huang J, Hung YJ, Ikram MA, Jagadeesan A, Jousilahti P, Kamatani Y, Kanai M, Kerrison ND, Kessler T, Khaw KT, Khor CC, de Kleijn DPV, Koh WP, Kolcic I, Kraft P, Krämer BK, Kutalik Z, Kuusisto J, Langenberg C, Launer LJ, Lawlor DA, Lee IT, Lee WJ, Lerch MM, Li L, Liu J, Loh M, London SJ, Loomis S, Lu Y, Luan J, Mägi R, Manichaikul AW, Manunta P, Másson G, Matoba N, Mei XW, Meisinger C, Meitinger T, Mezzavilla M, Milani L, Millwood IY, Momozawa Y, Moore A, Morange PE, Moreno-Macías H, Mori TA, Morrison AC, Muka T, Murakami Y, Murray AD, de Mutsert R, Mychaleckyj JC, Nalls MA, Nauck M, Neville MJ, Nolte IM, Ong KK, Orozco L, Padmanabhan S, Pálsson G, Pankow JS, Pattaro C, Pattie A, Polasek O, Poulter N, Pramstaller PP, Quintana-Murci L, Räikkönen K, Ralhan S, Rao DC, van Rheenen W, Rich SS, Ridker PM, Rietveld CA, Robino A, van Rooij FJA, Ruggiero D, Saba Y, Sabanayagam C, Sabater-Lleal M, Sala CF, Salomaa V, Sandow K, Schmidt H, Scott LJ, Scott WR, Sedaghati-Khayat B, Sennblad B, van Setten J, Sever PJ, Sheu WH, Shi Y, Shrestha S, Shukla SR, Sigurdsson JK, Sikka TT, Singh JR, Smith BH, Stančáková A, Stanton A, Starr JM, Stefansdottir L, Straker L, Sulem P, Sveinbjornsson G, Swertz MA, Taylor AM, Taylor KD, Terzikhan N, Tham YC, Thorleifsson G, Thorsteinsdottir U, Tillander A, Tracy RP, Tusié-Luna T, Tzoulaki I, Vaccargiu S, Vangipurapu J, Veldink JH, Vitart V, Völker U, Vuoksimaa E, Wakil SM, Waldenberger M, Wander GS, Wang YX, Wareham NJ, Wild S, Yajnik CS, Yuan JM, Zeng L, Zhang L, Zhou J, Amin N, Asselbergs FW, Bakker SJL, Becker DM, Lehne B, Bennett DA, van den Berg LH, Berndt SI, Bharadwaj D, Bielak LF, Bochud M, Boehnke M, Bouchard C, Bradfield JP, Brody JA, Campbell A, Carmi S, Caulfield MJ, Cesarini D, Chambers JC, Chandak GR, Cheng CY, Ciullo M, Cornelis M, Cusi D, Smith GD, Deary IJ, Dorajoo R, van Duijn CM, Ellinghaus D, Erdmann J, Eriksson JG, Evangelou E, Evans MK, Faul JD, Feenstra B, Feitosa M, Foisy S, Franke A, Friedlander Y, Gasparini P, Gieger C, Gonzalez C, Goyette P, Grant SFA, Griffiths LR, Groop L, Gudnason V, Gyllensten U, Hakonarson H, Hamsten A, van der Harst P, Heng CK, Hicks AA, Hochner H, Huikuri H, Hunt SC, Jaddoe VWV, De Jager PL, Johannesson M, Johansson Å, Jonas JB, Jukema JW, Junttila J, Kaprio J, Kardia SLR, Karpe F, Kumari M, Laakso M, van der Laan SW, Lahti J, Laudes M, Lea RA, Lieb W, Lumley T, Martin NG, März W, Matullo G, McCarthy MI, Medland SE, Merriman TR, Metspalu A, Meyer BF, Mohlke KL, Montgomery GW, Mook-Kanamori D, Munroe PB, North KE, Nyholt DR, O'connell JR, Ober C, Oldehinkel AJ, Palmas W, Palmer C, Pasterkamp GG, Patin E, Pennell CE, Perusse L, Peyser PA, Pirastu M, Polderman TJC, Porteous DJ, Posthuma D, Psaty BM, Rioux JD, Rivadeneira F, Rotimi C, Rotter JI, Rudan I, Den Ruijter HM, Sanghera DK, Sattar N, Schmidt R, Schulze MB, Schunkert H, Scott RA, Shuldiner AR, Sim X, Small N, Smith JA, Sotoodehnia N, Tai ES, Teumer A, Timpson NJ, Toniolo D, Tregouet DA, Tuomi T, Vollenweider P, Wang CA, Weir DR, Whitfield JB, Wijmenga C, Wong TY, Wright J, Yang J, Yu L, Zemel BS, Zonderman AB, Perola M, Magnusson PKE, Uitterlinden AG, Kooner JS, Chasman DI, Loos RJF, Franceschini N, Franke L, Haley CS, Hayward C, Walters RG, Perry JRB, Esko T, Helgason A, Stefansson K, Joshi PK, Kubo M, Wilson JF

Nature communications　Vol. 10　No. 1　p. 4957-4957　2019/10/31　Research paper (scientific journal)

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Tin A, Marten J, Halperin Kuhns VL, Li Y, Wuttke M, Kirsten H, Sieber KB, Qiu C, Gorski M, Yu Z, Giri A, Sveinbjornsson G, Li M, Chu AY, Hoppmann A, O'Connor LJ, Prins B, Nutile T, Noce D, Akiyama M, Cocca M, Ghasemi S, van der Most PJ, Horn K, Xu Y, Fuchsberger C, Sedaghat S, Afaq S, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boerwinkle E, Bottinger EP, Boutin TS, Brumat M, Burkhardt R, Campana E, Campbell A, Campbell H, Carroll RJ, Catamo E, Chambers JC, Ciullo M, Concas MP, Coresh J, Corre T, Cusi D, Felicita SC, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Delgado G, Demirkan A, Devuyst O, Dittrich K, Eckardt KU, Ehret G, Endlich K, Evans MK, Gansevoort RT, Gasparini P, Giedraitis V, Gieger C, Girotto G, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, German Chronic Kidney, Disease Study, Haller T, Hamet P, Harris TB, Hayward C, Hicks AA, Hofer E, Holm H, Huang W, Hutri-Kähönen N, Hwang SJ, Ikram MA, Lewis RM, Ingelsson E, Jakobsdottir J, Jonsdottir I, Jonsson H, Joshi PK, Josyula NS, Jung B, Kähönen M, Kamatani Y, Kanai M, Kerr SM, Kiess W, Kleber ME, Koenig W, Kooner JS, Körner A, Kovacs P, Krämer BK, Kronenberg F, Kubo M, Kühnel B, La Bianca M, Lange LA, Lehne B, Lehtimäki T, Lifelines Cohort Study, Liu J, Loeffler M, Loos RJF, Lyytikäinen LP, Magi R, Mahajan A, Martin NG, März W, Mascalzoni D, Matsuda K, Meisinger C, Meitinger T, Metspalu A, Milaneschi Y, V. A. Million Veteran Program, O'Donnell CJ, Wilson OD, Gaziano JM, Mishra PP, Mohlke KL, Mononen N, Montgomery GW, Mook-Kanamori DO, Müller-Nurasyid M, Nadkarni GN, Nalls MA, Nauck M, Nikus K, Ning B, Nolte IM, Noordam R, O'Connell JR, Olafsson I, Padmanabhan S, Penninx BWJH, Perls T, Peters A, Pirastu M, Pirastu N, Pistis G, Polasek O, Ponte B, Porteous DJ, Poulain T, Preuss MH, Rabelink TJ, Raffield LM, Raitakari OT, Rettig R, Rheinberger M, Rice KM, Rizzi F, Robino A, Rudan I, Krajcoviechova A, Cifkova R, Rueedi R, Ruggiero D, Ryan KA, Saba Y, Salvi E, Schmidt H, Schmidt R, Shaffer CM, Smith AV, Smith BH, Spracklen CN, Strauch K, Stumvoll M, Sulem P, Tajuddin SM, Teren A, Thiery J, Thio CHL, Thorsteinsdottir U, Toniolo D, Tönjes A, Tremblay J, Uitterlinden AG, Vaccargiu S, van der Harst P, van Duijn CM, Verweij N, Völker U, Vollenweider P, Waeber G, Waldenberger M, Whitfield JB, Wild SH, Wilson JF, Yang Q, Zhang W, Zonderman AB, Bochud M, Wilson JG, Pendergrass SA, Ho K, Parsa A, Pramstaller PP, Psaty BM, Böger CA, Snieder H, Butterworth AS, Okada Y, Edwards TL, Stefansson K, Susztak K, Scholz M, Heid IM, Hung AM, Teumer A, Pattaro C, Woodward OM, Vitart V, Köttgen A

Nature genetics　Vol. 51　No. 10　p. 1459-1474　2019/10　Research paper (scientific journal)

GREP: genome for REPositioning drugs.

Sakaue S, Okada Y

Bioinformatics　Vol. 35　No. 19　p. 3821-3823　2019/10/01　Research paper (scientific journal)

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

Kawamura Y., Nakaoka H., Nakayama A., Okada Y., Yamamoto K., Higashino T., Sakiyama M., Shimizu T., Ooyama H., Ooyama K., Nagase M., Hidaka Y., Shirahama Y., Hosomichi K., Nishida Y., Shimoshikiryo I., Hishida A., Katsuura-Kamano S., Shimizu S., Kawaguchi M., Uemura H., Ibusuki R., Hara M., Naito M., Takao M., Nakajima M., Iwasawa S., Nakashima H., Ohnaka K., Nakamura T., Stiburkova B., Merriman TR, Nakatochi M., Ichihara S., Yokota M., Takada T., Saitoh T., Kamatani Y., Takahashi A., Arisawa K., Takezaki T., Tanaka K., Wakai K., Kubo M., Hosoya T., Ichida K., Inoue I., Shinomiya N., Matsuo H.

Annals of the Rheumatic Diseases　Vol. 78　No. 10　p. 1430-1437　2019/10　Research paper (scientific journal)

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M, Suzuki S, Matsui D, Naito M, Yamaji T, Iwasaki M, Sawada N, Tanno K, Sasaki M, Hozawa A, Minegishi N, Wakai K, Tsugane S, Shimizu A, Yamamoto M, Okada Y, Murakami Y, Kubo M, Kamatani Y

Nature Communications　Vol. 10　No. 1　p. 4393-4393　2019/09/27　Research paper (scientific journal)

Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population.

Sakaue S, Akiyama M, Hirata M, Matsuda K, Murakami Y, Kubo M, Kamatani Y, Okada Y

European Journal of Human Genetics　Vol. 28　No. 3　p. 378-382　2019/09/26　Research paper (scientific journal)

Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese.

Ogawa K, Okuno T, Hosomichi K, Hosokawa A, Hirata J, Suzuki K, Sakaue S, Kinoshita M, Asano Y, Miyamoto K, Inoue I, Kusunoki S, Okada Y, Mochizuki H

Journal of neuroinflammation　Vol. 16　No. 1　p. 162-162　2019/08/05　Research paper (scientific journal)

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M, Uchino S, Iida A, Noguchi S†, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I

Annals of neurology　Vol. 86　No. 2　p. 193-202　2019/08　Research paper (scientific journal)

Association of response to TNF inhibitors in rheumatoid arthritis with quantitative trait loci for CD40 and CD39.

Spiliopoulou A, Colombo M, Plant D, Nair N, Cui J, Coenen MJ, Ikari K, Yamanaka H, Saevarsdottir S, Padyukov L, Bridges SL Jr, Kimberly RP, Okada Y, van Riel PLC, Wolbink G, van der Horst-Bruinsma IE, de Vries N, Tak PP, Ohmura K, Canhão H, Guchelaar HJ, Huizinga TW, Criswell LA, Raychaudhuri S, Weinblatt ME, Wilson AG, Mariette X, Isaacs JD, Morgan AW, Pitzalis C, Barton A, McKeigue P

Annals of the rheumatic diseases　Vol. 78　No. 8　p. 1055-1061　2019/08　Research paper (scientific journal)

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Rainer Malik, Ganesh Chauhan, Matthew Traylor, Muralidharan Sargurupremraj, Yukinori Okada, Aniket Mishra, Loes Rutten-Jacobs, Anne-Katrin Giese, Sander W. van der Laan, Solveig Gretarsdottir, Christopher D. Anderson, Michael Chong, Hieab H. H. Adams, Tetsuro Ago, Peter Almgren, Philippe Amouyel, Hakan Ay, Traci M. Bartz, Oscar R. Benavente, Steve Bevan, Giorgio B. Boncoraglio, Robert D. Brown, Adam S. Butterworth, Caty Carrera, Cara L. Carty, Daniel I. Chasman, Wei-Min Chen, John W. Cole, Adolfo Correa, Ioana Cotlarciuc, Carlos Cruchaga, John Danesh, Paul I. W. de Bakker, Anita L. DeStefano, Marcel den Hoed, Qing Duan, Stefan T. Engelter, Guido J. Falcone, Rebecca F. Gottesman, Raji P. Grewal, Vilmundur Gudnason, Stefan Gustafsson, Jeffrey Haessler, Tamara B. Harris, Ahamad Hassan, Aki S. Havulinna, Susan R. Heckbert, Elizabeth G. Holliday, George Howard, Fang-Chi Hsu, Hyacinth I. Hyacinth, M. Arfan Ikram, Erik Ingelsson, Marguerite R. Irvin, Xueqiu Jian, Jordi Jiménez-Conde, Julie A. Johnson, J. Wouter Jukema, Masahiro Kanai, Keith L. Keene, Brett M. Kissela, Dawn O. Kleindorfer, Charles Kooperberg, Michiaki Kubo, Leslie A. Lange, Carl D. Langefeld, Claudia Langenberg, Lenore J. Launer, Jin-Moo Lee, Robin Lemmens, Didier Leys, Cathryn M. Lewis, Wei-Yu Lin, Arne G. Lindgren, Erik Lorentzen, Patrik K. Magnusson, Jane Maguire, Ani Manichaikul, Patrick F. McArdle, James F. Meschia, Braxton D. Mitchell, Thomas H. Mosley, Michael A. Nalls, Toshiharu Ninomiya, Martin J. O’Donnell, Bruce M. Psaty, Sara L. Pulit, Kristiina Rannikmäe, Alexander P. Reiner, Kathryn M. Rexrode, Kenneth Rice, Stephen S. Rich, Paul M. Ridker, Natalia S. Rost, Peter M. Rothwell, Jerome I. Rotter, Tatjana Rundek, Ralph L. Sacco, Saori Sakaue, Michele M. Sale, Veikko Salomaa, Bishwa R. Sapkota, Reinhold Schmidt, Carsten O. Schmidt, Ulf Schminke, Pankaj Sharma, Agnieszka Slowik, Cathie L. M. Sudlow, Christian Tanislav, Turgut Tatlisumak, Kent D. Taylor, Vincent N. S. Thijs, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Steffen Tiedt, Stella Trompet, Christophe Tzourio, Cornelia M. van Duijn, Matthew Walters, Nicholas J. Wareham, Sylvia Wassertheil-Smoller, James G. Wilson, Kerri L. Wiggins, Qiong Yang, Salim Yusuf, Joshua C. Bis, Tomi Pastinen, Arno Ruusalepp, Eric E. Schadt, Simon Koplev, Johan L. M. Björkegren, Veronica Codoni, Mete Civelek, Nicholas L. Smith, David A. Trégouët, Ingrid E. Christophersen, Carolina Roselli, Steven A. Lubitz, Patrick T. Ellinor, E. Shyong Tai, Jaspal S. Kooner, Norihiro Kato, Jiang He, Pim van der Harst, Paul Elliott, John C. Chambers, Fumihiko Takeuchi, Andrew D. Johnson, Dharambir K. Sanghera, Olle Melander, Christina Jern, Daniel Strbian, Israel Fernandez-Cadenas, W. T. Longstreth, Arndt Rolfs, Jun Hata, Daniel Woo, Jonathan Rosand, Guillaume Pare, Jemma C. Hopewell, Danish Saleheen, Kari Stefansson, Bradford B. Worrall, Steven J. Kittner, Sudha Seshadri, Myriam Fornage, Hugh S. Markus, Joanna M. M. Howson, Yoichiro Kamatani, Stephanie Debette, Martin Dichgans

Nature Genetics　Vol. 51　No. 7　p. 1192-1193　2019/07　Research paper (scientific journal)

Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

Shungin D, Haworth S, Divaris K, Agler CS, Kamatani Y, Keun Lee M, Grinde K, Hindy G, Alaraudanjoki V, Pesonen P, Teumer A, Holtfreter B, Sakaue S, Hirata J, Yu YH, Ridker PM, Giulianini F, Chasman DI, Magnusson PKE, Sudo T, Okada Y, Völker U, Kocher T, Anttonen V, Laitala ML, Orho-Melander M, Sofer T, Shaffer JR, Vieira A, Marazita ML, Kubo M, Furuichi Y, North KE, Offenbacher S, Ingelsson E, Franks PW, Timpson NJ, Johansson I

Nature communications　Vol. 10　No. 1　p. 2773-2773　2019/06/24　Research paper (scientific journal)

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, Tin A, Wang L, Chu AY, Hoppmann A, Kirsten H, Giri A, Chai JF, Sveinbjornsson G, Tayo BO, Nutile T, Fuchsberger C, Marten J, Cocca M, Ghasemi S, Xu Y, Horn K, Noce D, van der Most PJ, Sedaghat S, Yu Z, Akiyama M, Afaq S, Ahluwalia TS, Almgren P, Amin N, Ärnlöv J, Bakker SJL, Bansal N, Baptista D, Bergmann S, Biggs ML, Biino G, Boehnke M, Boerwinkle E, Boissel M, Bottinger EP, Boutin TS, Brenner H, Brumat M, Burkhardt R, Butterworth AS, Campana E, Campbell A, Campbell H, Canouil M, Carroll RJ, Catamo E, Chambers JC, Chee ML, Chee ML, Chen X, Cheng CY, Cheng Y, Christensen K, Cifkova R, Ciullo M, Concas MP, Cook JP, Coresh J, Corre T, Sala CF, Cusi D, Danesh J, Daw EW, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Delgado G, Demirkan A, Di Angelantonio E, Dittrich K, Divers J, Dorajoo R, Eckardt KU, Ehret G, Elliott P, Endlich K, Evans MK, Felix JF, Foo VHX, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Friedlander Y, Froguel P, Gansevoort RT, Gao H, Gasparini P, Gaziano JM, Giedraitis V, Gieger C, Girotto G, Giulianini F, Gögele M, Gordon SD, Gudbjartsson DF, Gudnason V, Haller T, Hamet P, Harris TB, Hartman CA, Hayward C, Hellwege JN, Heng CK, Hicks AA, Hofer E, Huang W, Hutri-Kähönen N, Hwang SJ, Ikram MA, Indridason OS, Ingelsson E, Ising M, Jaddoe VWV, Jakobsdottir J, Jonas JB, Joshi PK, Josyula NS, Jung B, Kähönen M, Kamatani Y, Kammerer CM, Kanai M, Kastarinen M, Kerr SM, Khor CC, Kiess W, Kleber ME, Koenig W, Kooner JS, Körner A, Kovacs P, Kraja AT, Krajcoviechova A, Kramer H, Krämer BK, Kronenberg F, Kubo M, Kühnel B, Kuokkanen M, Kuusisto J, La Bianca M, Laakso M, Lange LA, Langefeld CD, Lee JJ, Lehne B, Lehtimäki T, Lieb W, Lifelines Cohort Study, Lim SC, Lind L, Lindgren CM, Liu J, Liu J, Loeffler M, Loos RJF, Lucae S, Lukas MA, Lyytikäinen LP, Mägi R, Magnusson PKE, Mahajan A, Martin NG, Martins J, März W, Mascalzoni D, Matsuda K, Meisinger C, Meitinger T, Melander O, Metspalu A, Mikaelsdottir EK, Milaneschi Y, Miliku K, Mishra PP, V. A. Million Veteran Program, Mohlke KL, Mononen N, Montgomery GW, Mook-Kanamori DO, Mychaleckyj JC, Nadkarni GN, Nalls MA, Nauck M, Nikus K, Ning B, Nolte IM, Noordam R, O'Connell J, O'Donoghue ML, Olafsson I, Oldehinkel AJ, Orho-Melander M, Ouwehand WH, Padmanabhan S, Palmer ND, Palsson R, Penninx BWJH, Perls T, Perola M, Pirastu M, Pirastu N, Pistis G, Podgornaia AI, Polasek O, Ponte B, Porteous DJ, Poulain T, Pramstaller PP, Preuss MH, Prins BP, Province MA, Rabelink TJ, Raffield LM, Raitakari OT, Reilly DF, Rettig R, Rheinberger M, Rice KM, Ridker PM, Rivadeneira F, Rizzi F, Roberts DJ, Robino A, Rossing P, Rudan I, Rueedi R, Ruggiero D, Ryan KA, Saba Y, Sabanayagam C, Salomaa V, Salvi E, Saum KU, Schmidt H, Schmidt R, Schöttker B, Schulz CA, Schupf N, Shaffer CM, Shi Y, Smith AV, Smith BH, Soranzo N, Spracklen CN, Strauch K, Stringham HM, Stumvoll M, Svensson PO, Szymczak S, Tai ES, Tajuddin SM, Tan NYQ, Taylor KD, Teren A, Tham YC, Thiery J, Thio CHL, Thomsen H, Thorleifsson G, Toniolo D, Tönjes A, Tremblay J, Tzoulaki I, Uitterlinden AG, Vaccargiu S, van Dam RM, van der Harst P, van Duijn CM, Velez Edward DR, Verweij N, Vogelezang S, Völker U, Vollenweider P, Waeber G, Waldenberger M, Wallentin L, Wang YX, Wang C, Waterworth DM, Bin Wei W, White H, Whitfield JB, Wild SH, Wilson JF, Wojczynski MK, Wong C, Wong TY, Xu L, Yang Q, Yasuda M, Yerges-Armstrong LM, Zhang W, Zonderman AB, Rotter JI, Bochud M, Psaty BM, Vitart V, Wilson JG, Dehghan A, Parsa A, Chasman DI, Ho K, Morris AP, Devuyst O, Akilesh S, Pendergrass SA, Sim X, Böger CA, Okada Y, Edwards TL, Snieder H, Stefansson K, Hung AM, Heid IM, Scholz M, Teumer A, Köttgen A, Pattaro C

Nature genetics　Vol. 51　No. 6　p. 957-972　2019/06　Research paper (scientific journal)

A Transethnic Mendelian Randomization Study Identifies Causality of Obesity on Risk of Psoriasis.

Ogawa K, Stuart PE, Tsoi LC, Suzuki K, Nair RP, Mochizuki H, Elder JT, Okada Y

The Journal of investigative dermatology　Vol. 139　No. 6　p. 1397-1400　2019/06　Research paper (scientific journal)

IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors.

Amariuta T, Luo Y, Gazal S, Davenport EE, van de Geijn B, Ishigaki K, Westra HJ, Teslovich N, Okada Y, Yamamoto K, RACI Consortium, GARNET Consortium, Price AL, Raychaudhuri S

American journal of human genetics　Vol. 104　No. 5　p. 879-895　2019/05/02　Research paper (scientific journal)

GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture.

Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y

Nature human behaviour　Vol. 3　No. 5　p. 471-477　2019/05　Research paper (scientific journal)

Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians.

Molineros JE, Looger LL, Kim K, Okada Y, Terao C, Sun C, Zhou XJ, Raj P, Kochi Y, Suzuki A, Akizuki S, Nakabo S, Bang SY, Lee HS, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Zuo X, Yamamoto K, Li QZ, Shen N, Porter LL, Harley JB, Chua KH, Zhang H, Wakeland EK, Tsao BP, Bae SC, Nath SK

PLoS genetics　Vol. 15　No. 4　2019/04　Research paper (scientific journal)

Clinical use of current polygenic risk scores may exacerbate health disparities.

Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, Daly MJ

Nature genetics　Vol. 51　No. 4　p. 584-591　2019/04　Research paper (scientific journal)

PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes.

Akizuki S, Ishigaki K, Kochi Y, Law SM, Matsuo K, Ohmura K, Suzuki A, Nakayama M, Iizuka Y, Koseki H, Ohara O, Hirata J, Kamatani Y, Matsuda F, Sumida T, Yamamoto K, Okada Y, Mimori T, Terao C

Annals of the rheumatic diseases　Vol. 78　No. 4　p. 509-518　2019/04　Research paper (scientific journal)

Transcriptome profiling of refractory atopic keratoconjunctivitis by RNA sequencing.

Matsuda A, Asada Y, Suita N, Iwamoto S, Hirakata T, Yokoi N, Ohkawa Y, Okada Y, Yokomizo T, Ebihara N

The Journal of allergy and clinical immunology　Vol. 143　No. 4　p. 1610-1614　2019/04　Research paper (scientific journal)

Genetics of rheumatoid arthritis: 2018 status.

Okada Y, Eyre S, Suzuki A, Kochi Y, Yamamoto K

Annals of the rheumatic diseases　Vol. 78　No. 4　p. 446-453　2019/04　Research paper (scientific journal)

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population.

Hirata J, Hosomichi K, Sakaue S, Kanai M, Nakaoka H, Ishigaki K, Suzuki K, Akiyama M, Kishikawa T, Ogawa K, Masuda T, Yamamoto K, Hirata M, Matsuda K, Momozawa Y, Inoue I, Kubo M, Kamatani Y, Okada Y

Nature genetics　Vol. 51　No. 3　p. 470-480　2019/03　Research paper (scientific journal)

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

Suzuki K, Akiyama M, Ishigaki K, Kanai M, Hosoe J, Shojima N, Hozawa A, Kadota A, Kuriki K, Naito M, Tanno K, Ishigaki Y, Hirata M, Matsuda M, Iwata N, Ikeda M, Sawada N, Yamaji T, Iwasaki M, Ikegawa S, Maeda S, Murakami Y, Wakai K, Tsugane S, Sasaki M, Yamamoto M, Okada Y, Kubo M, Kamatani Y†, Horikoshi M†, Yamauchi T†, Kadowaki T

Nature genetics　Vol. 51　No. 3　p. 379-386　2019/03　Research paper (scientific journal)

Suppression of autophagic activity by Rubicon is a signature of aging.

Nakamura S, Oba M, Suzuki M, Takahashi A, Yamamuro T, Fujiwara M, Ikenaka K, Minami S, Tabata N, Yamamoto K, Kubo S, Tokumura A, Akamatsu K, Miyazaki Y, Kawabata T, Hamasaki M, Fukui K, Sango K, Watanabe Y, Takabatake Y, Kitajima TS, Okada Y, Mochizuki H, Isaka Y, Antebi A, Yoshimori T

Nature communications　Vol. 10　No. 1　p. 847-847　2019/02/19　Research paper (scientific journal)

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data.

Kishikawa T, Momozawa Y, Ozeki T, Mushiroda T, Inohara H, Kamatani Y, Kubo M, Okada Y

Scientific reports　Vol. 9　No. 1　p. 1784-1784　2019/02/11　Research paper (scientific journal)

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.

Liu M, Jiang Y, Wedow R, Li Y, Brazel DM, Chen F, Datta G, Davila-Velderrain J, McGuire D, Tian C, Zhan X, andMe Research Team, HUNT All-In Psychiatry, Choquet H, Docherty AR, Faul JD, Foerster JR, Fritsche LG, Gabrielsen ME, Gordon SD, Haessler J, Hottenga JJ, Huang H, Jang SK, Jansen PR, Ling Y, Mägi R, Matoba N, McMahon G, Mulas A, Orrù V, Palviainen T, Pandit A, Reginsson GW, Skogholt AH, Smith JA, Taylor AE, Turman C, Willemsen G, Young H, Young KA, Zajac GJM, Zhao W, Zhou W, Bjornsdottir G, Boardman JD, Boehnke M, Boomsma DI, Chen C, Cucca F, Davies GE, Eaton CB, Ehringer MA, Esko T, Fiorillo E, Gillespie NA, Gudbjartsson DF, Haller T, Harris KM, Heath AC, Hewitt JK, Hickie IB, Hokanson JE, Hopfer CJ, Hunter DJ, Iacono WG, Johnson EO, Kamatani Y, Kardia SLR, Keller MC, Kellis M, Kooperberg C, Kraft P, Krauter KS, Laakso M, Lind PA, Loukola A, Lutz SM, Madden PAF, Martin NG, McGue M, McQueen MB, Medland SE, Metspalu A, Mohlke KL, Nielsen JB, Okada Y, Peters U, Polderman TJC, Posthuma D, Reiner AP, Rice JP, Rimm E, Rose RJ, Runarsdottir V, Stallings MC, Stančáková A, Stefansson H, Thai KK, Tindle HA, Tyrfingsson T, Wall TL, Weir DR, Weisner C, Whitfield JB, Winsvold BS, Yin J, Zuccolo L, Bierut LJ, Hveem K, Lee JJ, Munafò MR, Saccone NL, Willer CJ, Cornelis MC, David SP, Hinds DA, Jorgenson E, Kaprio J, Stitzel JA, Stefansson K, Thorgeirsson TE, Abecasis G, Liu DJ, Vrieze S

Nature genetics　Vol. 51　No. 2　p. 237-244　2019/02　Research paper (scientific journal)

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ, Hemani G, Smith GD, Mahajan A, Gaulton KJ, Nadkarni GN, Valladares-Salgado A, Wacher-Rodarte N, Mychaleckyj JC, Dueker ND, Guo X, Hai Y, Haessler J, Kamatani Y, Stilp AM, Zhu G, Cook JP, Ärnlöv J, Blanton SH, de Borst MH, Bottinger EP, Buchanan TA, Cechova S, Charchar FJ, Chu PL, Damman J, Eales J, Gharavi AG, Giedraitis V, Heath AC, Ipp E, Kiryluk K, Kramer HJ, Kubo M, Larsson A, Lindgren CM, Lu Y, Madden PAF, Montgomery GW, Papanicolaou GJ, Raffel LJ, Sacco RL, Sanchez E, Stark H, Sundstrom J, Taylor KD, Xiang AH, Zivkovic A, Lind L, Ingelsson E, Martin NG, Whitfield JB, Cai J, Laurie CC, Okada Y, Matsuda K, Kooperberg C, Chen YI, Rundek T, Rich SS, Loos RJF, Parra EJ, Cruz M, Rotter JI, Snieder H, Tomaszewski M, Humphreys BD, Franceschini N

Nature communications　Vol. 10　No. 1　p. 29-29　2019/01/03　Research paper (scientific journal)

Mechanistic Characterization of RASGRP1 Variants Identifies an hnRNP-K-Regulated Transcriptional Enhancer Contributing to SLE Susceptibility.

Molineros JE, Singh B, Terao C, Okada Y, Kaplan J, McDaniel B, Akizuki S, Sun C, Webb CF, Looger LL, Nath SK

Frontiers in immunology　Vol. 10　p. 1066-1066　2019　Research paper (scientific journal)

Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

Nakatochi M, Kanai M, Nakayama A, Hishida A, Kawamura Y, Ichihara S, Akiyama M, Ikezaki H, Furusyo N, Shimizu S, Yamamoto K, Hirata M, Okada R, Kawai S, Kawaguchi M, Nishida Y, Shimanoe C, Ibusuki R, Takezaki T, Nakajima M, Takao M, Ozaki E, Matsui D, Nishiyama T, Suzuki S, Takashima N, Kita Y, Endoh K, Kuriki K, Uemura H, Arisawa K, Oze I, Matsuo K, Nakamura Y, Mikami H, Tamura T, Nakashima H, Nakamura T, Kato N, Matsuda K, Murakami Y, Matsubara T, Naito M, Kubo M, Kamatani Y, Shinomiya N, Yokota M, Wakai K, Okada Y, Matsuo H

Communications biology　Vol. 2　p. 115-115　2019　Research paper (scientific journal)

Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis.

Terao C, Yoshifuji H, Matsumura T, Naruse TK, Ishii T, Nakaoka Y, Kirino Y, Matsuo K, Origuchi T, Shimizu M, Maejima Y, Amiya E, Tamura N, Kawaguchi T, Takahashi M, Setoh K, Ohmura K, Watanabe R, Horita T, Atsumi T, Matsukura M, Miyata T, Kochi Y, Suda T, Tanemoto K, Meguro A, Okada Y, Ogimoto A, Yamamoto M, Takahashi H, Nakayamada S, Saito K, Kuwana M, Mizuki N, Tabara Y, Ueda A, Komuro I, Kimura A, Isobe M, Mimori T, Matsuda F

Proceedings of the National Academy of Sciences of the United States of America　Vol. 115　No. 51　p. 13045-13050　2018/12/18　Research paper (scientific journal)

Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity.

Sakaue S, Hirata J, Maeda Y, Kawakami E, Nii T, Kishikawa T, Ishigaki K, Terao C, Suzuki K, Akiyama M, Suita N, Masuda T, Ogawa K, Yamamoto Y, Saeki Y, Matsushita M, Yoshimura M, Matsuoka H, Ikari K, Taniguchi A, Yamanaka H, Kawaji H, Lassmann T, Itoh M, Yoshitomi H, Ito H, Ohmura K, Forrest A, Hayashizaki Y, Carninci P, Kumanogoh A, Kamatani Y, de Hoon M, Yamamoto K, Okada Y

Nucleic acids research　Vol. 46　No. 22　p. 11898-11909　2018/12/14　Research paper (scientific journal)

Grimon: graphical interface to visualize multi-omics networks.

Kanai M, Maeda Y, Okada Y

Bioinformatics (Oxford, England)　Vol. 34　No. 22　p. 3934-3936　2018/11/15　Research paper (scientific journal)

Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians.

Buhm Han, Masato Akiyama, Kyung-Kon Kim, Hyunjung Oh, Hyunchul Choi, Cue Hyunkyu Lee, Seulgi Jung, Ho-Su Lee, Emma E Kim, Seungho Cook, Talin Haritunians, Keiko Yamazaki, Sang Hyoung Park, Byong Duk Ye, Dermot P B McGovern, Motohiro Esaki, Takaaki Kawaguchi, Seik-Soon Khor, Kent D Taylor, Jerome I Rotter, Yasuo Suzuki, Toshiyuki Matsui, Satoshi Motoya, So-Young Bang, Tae-Hwan Kim, Yukihide Momozawa, Yoichiro Kamatani, Katsushi Tokunaga, Michiaki Kubo, Yukinori Okada, Suk-Kyun Yang, Kyuyoung Song

Human molecular genetics　Vol. 27　No. 22　p. 3901-3910　2018/11/15　Research paper (scientific journal)

In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease.

Uenaka T, Satake W, Cha PC, Hayakawa H, Baba K, Jiang S, Kobayashi K, Kanagawa M, Okada Y, Mochizuki H, Toda T

Human molecular genetics　Vol. 27　No. 22　p. 3974-3985　2018/11/15　Research paper (scientific journal)

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, Traglia M, Ahluwalia TS, Akiyama M, Appel EVR, Arking DE, Arnold A, Astrup A, Beekman M, Beilby JP, Bekaert S, Boerwinkle E, Brown SJ, De Buyzere M, Campbell PJ, Ceresini G, Cerqueira C, Cucca F, Deary IJ, Deelen J, Eckardt KU, Ekici AB, Eriksson JG, Ferrrucci L, Fiers T, Fiorillo E, Ford I, Fox CS, Fuchsberger C, Galesloot TE, Gieger C, Gögele M, De Grandi A, Grarup N, Greiser KH, Haljas K, Hansen T, Harris SE, van Heemst D, den Heijer M, Hicks AA, den Hollander W, Homuth G, Hui J, Ikram MA, Ittermann T, Jensen RA, Jing J, Jukema JW, Kajantie E, Kamatani Y, Kasbohm E, Kaufman JM, Kiemeney LA, Kloppenburg M, Kronenberg F, Kubo M, Lahti J, Lapauw B, Li S, Liewald DCM, Lifelines Cohort Study, Lim EM, Linneberg A, Marina M, Mascalzoni D, Matsuda K, Medenwald D, Meisinger C, Meulenbelt I, De Meyer T, Meyer Zu Schwabedissen HE, Mikolajczyk R, Moed M, Netea-Maier RT, Nolte IM, Okada Y, Pala M, Pattaro C, Pedersen O, Petersmann A, Porcu E, Postmus I, Pramstaller PP, Psaty BM, Ramos YFM, Rawal R, Redmond P, Richards JB, Rietzschel ER, Rivadeneira F, Roef G, Rotter JI, Sala CF, Schlessinger D, Selvin E, Slagboom PE, Soranzo N, Sørensen TIA, Spector TD, Starr JM, Stott DJ, Taes Y, Taliun D, Tanaka T, Thuesen B, Tiller D, Toniolo D, Uitterlinden AG, Visser WE, Walsh JP, Wilson SG, Wolffenbuttel BHR, Yang Q, Zheng HF, Cappola A, Peeters RP, Naitza S, Völzke H, Sanna S, Köttgen A, Visser TJ, Medici M

Nature communications　Vol. 9　No. 1　p. 4455-4455　2018/10/26　Research paper (scientific journal)

Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis.

Li G, Martínez-Bonet M, Wu D, Yang Y, Cui J, Nguyen HN, Cunin P, Levescot A, Bai M, Westra HJ, Okada Y, Brenner MB, Raychaudhuri S, Hendrickson EA, Maas RL, Nigrovic PA

Annals of the rheumatic diseases　Vol. 77　No. 10　p. 1454-1462　2018/10　Research paper (scientific journal)

High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction.

Gang Li, Marta Martínez-Bonet, Di Wu, Yu Yang, Jing Cui, Hung N Nguyen, Pierre Cunin, Anaïs Levescot, Ming Bai, Harm-Jan Westra, Yukinori Okada, Michael B Brenner, Soumya Raychaudhuri, Eric A Hendrickson, Richard L Maas, Peter A Nigrovic

Nature genetics　Vol. 50　No. 8　p. 1180-1188　2018/08　Research paper (scientific journal)

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.

Okada Y, Momozawa Y, Sakaue S, Kanai M, Ishigaki K, Akiyama M, Kishikawa T, Arai Y, Sasaki T, Kosaki K, Suematsu M, Matsuda K, Yamamoto K, Kubo M, Hirose N, Kamatani Y

Nature communications　Vol. 9　No. 1　p. 1631-1631　2018/04/24　Research paper (scientific journal)

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Malik R, Chauhan C, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan A, Boncoraglio GB, Brown, Jr. RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen W, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu F, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange L, Langefeld CD, Langenberg C, Launer LJ, Lee J, Lemmens ,R Leys D, Lewis CM, Lin W, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit AL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, AFGen consortium, CHARGE Consortium, iGEN-BP Consortium, INVENT consortium, STARNET, Bis JC, Pastinen T, Ruusalepp A, Schadt E, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith N, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD, BioBank Japan, COMPASS consortium, EPIC-CVD consortium, EPIC-InterAct consortium, ISGC, METASTROKE Consortium, Neurology Working, Group of, CHARGE Consortium, NINDS SiGN, UK Young Lacunar, DNA Study, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth, Jr WT, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB†, Kittner SJ, Seshadri S, Fornage M, Markus HS†, Howson JMM, Kamatani Y, Debette S, Dichgans M

Nature genetics　Vol. 50　No. 4　p. 524-537　2018/04　Research paper (scientific journal)

Variants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese.

Hirata J, Hirota T, Ozeki T, Kanai M, Sudo T, Tanaka T, Hizawa N, Nakagawa H, Sato S, Mushiroda T, Saeki H, Tamari M, Okada Y

The Journal of investigative dermatology　Vol. 138　No. 3　p. 542-548　2018/03　Research paper (scientific journal)

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y

Nature genetics　Vol. 50　No. 3　p. 390-400　2018/03　Research paper (scientific journal)

Statistical genetics and its application to neuroimmunology

Ogawa K, Okada Y

Clinical and Experimental Neuroimmunology　Vol. 9　No. 1　p. 7-12　2018/02　Research paper (scientific journal)

eLD: entropy-based linkage disequilibrium index between multiallelic sites.

Okada Y

Human genome variation　Vol. 5　p. 29-29　2018　Research paper (scientific journal)

A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility.

Higashino T, Matsuo H, Okada Y, Nakashima H, Shimizu S, Sakiyama M, Tadokoro S, Nakayama A, Kawaguchi M, Komatsu M, Hishida A, Nakatochi M, Ooyama H, Imaki J, Shinomiya N

Human cell　Vol. 31　No. 1　p. 10-13　2018/01　Research paper (scientific journal)

Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population.

Terao C, Okada Y, Ikari K, Kochi Y, Suzuki A, Ohmura K, Matsuo K, Taniguchi A, Kubo M, Raychaudhuri S, Yamamoto K, Yamanaka H, Kamatani Y, Mimori T, Matsuda F

Journal of medical genetics　Vol. 54　No. 12　p. 853-858　2017/12　Research paper (scientific journal)

Human genetics contributes to the understanding of disease pathophysiology and drug discovery.

Sakaue S, Okada Y

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association　Vol. 22　No. 6　p. 977-981　2017/11　Research paper (scientific journal)

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

Akiyama M, Okada Y, Kanai M, Takahashi A, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Iwasaki M, Yamaji T, Sawada N, Hachiya T, Tanno K, Shimizu A, Hozawa A, Minegishi N, Tsugane S, Yamamoto M, Kubo M, Kamatani Y

Nature genetics　Vol. 49　No. 10　p. 1458-1467　2017/10　Research paper (scientific journal)

rs2841277 (PLD4) is associated with susceptibility and rs4672495 is associated with disease activity in rheumatoid arthritis.

Chen WC, Wang WC, Okada Y, Chang WP, Chou YH, Chang HH, Huang JD, Chen DY†, Chang WC

Oncotarget　Vol. 8　No. 38　p. 64180-64190　2017/09/08　Research paper (scientific journal)

Association of NOD2 Mutations with Aggressive Periodontitis

T. Sudo, Y. Okada, K. Ozaki, K. Urayama, M. Kanai, H. Kobayashi, M. Gokyu, Y. Izumi, T. Tanaka

Journal of Dental Research　Vol. 96　No. 10　p. 1100-1105　2017/09　Research paper (scientific journal)

Future Directions of Genomics Research in Rheumatic Diseases.

Okada Y, Kishikawa T, Sakaue S, Hirata J

Rheumatic diseases clinics of North America　Vol. 43　No. 3　p. 481-487　2017/08　Research paper (scientific journal)

Data Sparsity in Study on Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications-Reply.

Okada Y, Ueta M

JAMA ophthalmology　Vol. 135　No. 8　p. 894-895　2017/08/01　Research paper (scientific journal)

Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis.

Ishigaki K, Kochi Y, Suzuki A, Tsuchida Y, Tsuchiya H, Sumitomo S, Yamaguchi K, Nagafuchi Y, Nakachi S, Kato R, Sakurai K, Shoda H, Ikari K, Taniguchi A, Yamanaka H, Miya F, Tsunoda T, Okada Y, Momozawa Y, Kamatani Y, Yamada R, Kubo M, Fujio K, Yamamoto K

Nature genetics　Vol. 49　No. 7　p. 1120-1125　2017/07　Research paper (scientific journal)

Association of variations in HLA-class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma

Shiraishi Kouya, Okada Yukinori, Takahashi Atsushi, Kamatani Yoichiro, Ashikawa Kyota, Momozawa Yukihide, Kunitoh Hideo, Matsumoto Shingo, Takano Atsushi, Shimizu Kimihiro, Goto Akiteru, Tsuta Koji, Watanabe Shun-ichi, Ohe Yuichiro, Watanabe Yukio, Goto Yasishi, Nokihara Hiroshi, Furuta Koh, Yoshida Akihiko, Goto Koichi, Hishida Tomoyuki, Tsuboi Masahiro, Tsuchihara Katsuya, Miyagi Yohei, Nakamura Haruhiko, Yokose Tomoyuki, Tanaka Katsuya, Nagashima Toshiteru, Ohtaki Yoichi, Maeda Daichi, Imai Kazuhiro, Minamiya Yoshihiro, Sakamoto Hiromi, Saito Akira, Shimada Yoko, Sunami Kuniko, Saito Motonobu, Yoshida Teruhiko, Yokota Jun, Matsuda Fumihiko, Matsuo Keitaro, Daigo Yataro, Kubo Michiaki, Kohno Takashi

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION　Vol. 26　No. 5　2017/05

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

Nakayama A, Nakaoka H, Yamamoto K, Sakiyama M, Shaukat A, Toyoda Y, Okada Y, Kamatani Y, Nakamura T, Takada T, Inoue K, Yasujima T, Yuasa H, Shirahama Y, Nakashima H, Shimizu S, Higashino T, Kawamura Y, Ogata H, Kawaguchi M, Ohkawa Y, Danjoh I, Tokumasu A, Ooyama K, Ito T, Kondo T, Wakai K, Stiburkova B, Pavelka K, Stamp LK, Dalbeth N, Eurogout Consortium, Sakurai Y, Suzuki H, Hosoyamada M, Fujimori S, Yokoo T, Hosoya T, Inoue I, Takahashi A, Kubo M, Ooyama H, Shimizu T, Ichida K, Shinomiya N, Merriman TR, Matsuo H

Annals of the rheumatic diseases　Vol. 76　No. 5　p. 869-877　2017/05　Research paper (scientific journal)

A Multinational Arab Genome-Wide Association Study Identifies New Genetic Associations for Rheumatoid Arthritis.

Saxena R, Plenge RM, Bjonnes AC, Dashti HS, Okada Y, Gad El Haq W, Hammoudeh M, Al Emadi S, Masri BK, Halabi H, Badsha H, Uthman IW, Margolin L, Gupta N, Mahfoud ZR, Kapiri M, Dargham SR, Aranki G, Kazkaz LA, Arayssi T

Arthritis & rheumatology (Hoboken, N.J.)　Vol. 69　No. 5　p. 976-985　2017/05　Research paper (scientific journal)

Brief Report: The Role of Rare Protein-Coding Variants in Anti-Tumor Necrosis Factor Treatment Response in Rheumatoid Arthritis.

Cui J, Diogo D, Stahl EA, Canhao H, Mariette X, Greenberg JD, Okada Y, Pappas DA, Fulton RS, Tak PP, Nurmohamed MT, Lee A, Larson DE, Kurreeman F, Deluca TL, O'Laughlin M, Fronick CC, Fulton LL, Mardis ER, van der Horst-Bruinsma IE, Wolbink GJ, Gregersen PK, Kremer JM, Crusius JB, de Vries N, Huizinga TW, Fonseca JE, Miceli-Richard C, Karlson EW, Coenen MJ, Barton A, Plenge RM, Raychaudhuri S

Arthritis & rheumatology (Hoboken, N.J.)　Vol. 69　No. 4　p. 735-741　2017/04　Research paper (scientific journal)

Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population.

Wakamatsu TH, Ueta M, Tokunaga K, Okada Y, Loureiro RR, Costa KA, Sallum JM, Milhomens JA, Inoue C, Sotozono C, Gomes JÁ, Kinoshita S

JAMA ophthalmology　Vol. 135　No. 4　p. 355-360　2017/04/01　Research paper (scientific journal)

Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci.

Julio E Molineros, Wanling Yang, Xu-Jie Zhou, Celi Sun, Yukinori Okada, Huoru Zhang, Kek Heng Chua, Yu-Lung Lau, Yuta Kochi, Akari Suzuki, Kazuhiko Yamamoto, Jianyang Ma, So-Young Bang, Hye-Soon Lee, Kwangwoo Kim, Sang-Cheol Bae, Hong Zhang, Nan Shen, Loren L Looger, Swapan K Nath

Human molecular genetics　Vol. 26　No. 6　p. 1205-1216　2017/03/15　Research paper (scientific journal)

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

van Rooij FJ, Qayyum R, Smith AV, Zhou Y, Trompet S, Tanaka T, Keller MF, Chang LC, Schmidt H, Yang ML, Chen MH, Hayes J, Johnson AD, Yanek LR, Mueller C, Lange L, Floyd JS, Ghanbari M, Zonderman AB, Jukema JW, Hofman A, van Duijn CM, Desch KC, Saba Y, Ozel AB, Snively BM, Wu JY, Schmidt R, Fornage M, Klein RJ, Fox CS, Matsuda K, Kamatani N, Wild PS, Stott DJ, Ford I, Slagboom PE, Yang J, Chu AY, Lambert AJ, Uitterlinden AG, Franco OH, Hofer E, Ginsburg D, Hu B, Keating B, Schick UM, Brody JA, Li JZ, Chen Z, Zeller T, Guralnik JM, Chasman DI, Peters LL, Kubo M, Becker DM, Li J, Eiriksdottir G, Rotter JI, Levy D, Grossmann V, Patel KV, Chen CH, BioBank Japan Project, Ridker PM, Tang H, Launer LJ, Rice KM, Li-Gao R, Ferrucci L, Evans MK, Choudhuri A, Trompouki E, Abraham BJ, Yang S, Takahashi A, Kamatani Y, Kooperberg C, Harris TB, Jee SH, Coresh J, Tsai FJ, Longo DL, Chen YT, Felix JF, Yang Q, Psaty BM, Boerwinkle E, Becker LC, Mook-Kanamori DO, Wilson JG, Gudnason V, O'Donnell CJ, Dehghan A, Cupples LA, Nalls MA, Morris AP, Okada Y, Reiner AP, Zon LI, Ganesh SK

American journal of human genetics　Vol. 100　No. 1　p. 51-63　2017/01/05　Research paper (scientific journal)

OA10.02 Association of Variations in HLA-Class II and Other Loci with Susceptibility to EGFR-Mutated Lung Adenocarcinoma

Kouya Shiraishi, Yukinori Okada, Atsushi Takahashi, Yoichiro Kamatani, Kyota Ashikawa, Yukihide Momozawa, Hideo Kunitoh, Shingo Matsumoto, Atsushi Takano, Kimihiro Shimizu, Akiteru Goto, Koji Tsuta, Shun-Ichi Watanabe, Yuichiro Ohe, Yukio Watanabe, Yasishi Goto, Hiroshi Nokihara, Koh Furuta, Akihiko Yoshida, Koichi Goto, Tomoyuki Hishida, Masahiro Tsuboi, Katsuya Tsuchihara, Yohei Miyagi, Haruhiko Nakamura, Tomoyuki Yokose, Katsuya Tanaka, Toshiteru Nagashima, Yoichi Ohtaki, Daichi Maeda, Kazuhiro Imai, Yoshihiro Minamiya, Yoko Shimada, Kuniko Sunami, Motonobu Saito, Jun Yokota, Fumihiko Matsuda, Keitaro Matsuo, Yataro Daigo, Michiaki Kubo, Takashi Kohno

Journal of Thoracic Oncology　Vol. 12　No. 1　p. S280-S281　2017/01　Research paper (international conference proceedings)

Combination of mouse models and genomewide association studies highlights novel genes associated with human kidney function.

Jing J, Pattaro C, Hoppmann A, Okada Y, CKDGen Consortium, Fox CS, Köttgen A

Kidney international　Vol. 90　No. 4　p. 764-73　2016/10　Research paper (scientific journal)

Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set.

Kanai M, Tanaka T, Okada Y

Journal of human genetics　Vol. 61　No. 10　p. 861-866　2016/10　Research paper (scientific journal)

Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study.

Li Z, Xia Y, Feng LN, Chen JR, Li HM, Cui J, Cai QQ, Sim KS, Nairismägi ML, Laurensia Y, Meah WY, Liu WS, Guo YM, Chen LZ, Feng QS, Pang CP, Chen LJ, Chew SH, Ebstein RP, Foo JN, Liu J, Ha J, Khoo LP, Chin ST, Zeng YX, Aung T, Chowbay B, Diong CP, Zhang F, Liu YH, Tang T, Tao M, Quek R, Mohamad F, Tan SY, Teh BT, Ng SB, Chng WJ, Ong CK, Okada Y, Raychaudhuri S, Lim ST, Tan W, Peng RJ, Khor CC, Bei JX

The Lancet. Oncology　Vol. 17　No. 9　p. 1240-7　2016/09　Research paper (scientific journal)

Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

Mahajan A, Rodan AR, Le TH, Gaulton KJ, Haessler J, Stilp AM, Kamatani Y, Zhu G, Sofer T, Puri S, Schellinger JN, Chu PL, Cechova S, van Zuydam N, SUMMIT Consortium, BioBank Japan Project, Arnlov J, Flessner MF, Giedraitis V, Heath AC, Kubo M, Larsson A, Lindgren CM, Madden PA, Montgomery GW, Papanicolaou GJ, Reiner AP, Sundström J, Thornton TA, Lind L, Ingelsson E, Cai J, Martin NG, Kooperberg C, Matsuda K, Whitfield JB, Okada Y, Laurie CC, Morris AP, Franceschini N

American journal of human genetics　Vol. 99　No. 3　p. 636-646　2016/09/01　Research paper (scientific journal)

The Rheumatoid Arthritis Risk Variant CCR6DNP Regulates CCR6 via PARP-1.

Li G., Cunin P., Wu D., Diogo D., Yang Y., Okada Y., Plenge RM, Nigrovic PA

PLoS genetics　Vol. 12　No. 9　p. e1006292-e1006292　2016/09　Research paper (scientific journal)

Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.

Shiraishi K, Okada Y, Takahashi A, Kamatani Y, Momozawa Y, Ashikawa K, Kunitoh H, Matsumoto S, Takano A, Shimizu K, Goto A, Tsuta K, Watanabe S, Ohe Y, Watanabe Y, Goto Y, Nokihara H, Furuta K, Yoshida A, Goto K, Hishida T, Tsuboi M, Tsuchihara K, Miyagi Y, Nakayama H, Yokose T, Tanaka K, Nagashima T, Ohtaki Y, Maeda D, Imai K, Minamiya Y, Sakamoto H, Saito A, Shimada Y, Sunami K, Saito M, Inazawa J, Nakamura Y, Yoshida T, Yokota J, Matsuda F, Matsuo K, Daigo Y, Kubo M, Kohno T

Nature communications　Vol. 7　No. 1　p. 12451-12451　2016/08/09　Research paper (scientific journal)

Dosage Contribution of a Non-Classical HLA Gene, HLA-Doa, to the Risk of Rheumatoid Arthritis

Okada Y., Suzuki A., Ikari K., Terao C., Kochi Y., Ohmura K., Higasa K., Akiyama M., Ashikawa K., Kanai M., Hirata J., Suita N., Teo YY, Xu H., Bae SC, Takahashi A., Momozawa Y., Matsuda K., Momohara S., Taniguchi A., Yamada R., Mimori T., Kubo M., Brown MA, Raychaudhuri S., Matsuda F., Yamanaka H., Kamatani Y., Yamamoto K.

ARTHRITIS & RHEUMATOLOGY　Vol. 68　2016/08/04　Research paper (scientific journal)

Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis.

Okada Y, Suzuki A, Ikari K, Terao C, Kochi Y, Ohmura K, Higasa K, Akiyama M, Ashikawa K, Kanai M, Hirata J, Suita N, Teo YY, Xu H, Bae SC, Takahashi A, Momozawa Y, Matsuda K, Momohara S, Taniguchi A, Yamada R, Mimori T, Kubo M, Brown MA, Raychaudhuri S, Matsuda F, Yamanaka H, Kamatani Y, Yamamoto K

American journal of human genetics　Vol. 99　No. 2　p. 366-74　2016/08/04　Research paper (scientific journal)

Immunophenotyping of rheumatoid arthritis reveals a linkage between HLA-DRB1 genotype, CXCR4 expression on memory CD4(+) T cells, and disease activity.

Nagafuchi Y, Shoda H, Sumitomo S, Nakachi S, Kato R, Tsuchida Y, Tsuchiya H, Sakurai K, Hanata N, Tateishi S, Kanda H, Ishigaki K, Okada Y, Suzuki A, Kochi Y, Fujio K, Yamamoto K

Scientific reports　Vol. 6　No. 1　p. 29338-29338　2016/07/07　Research paper (scientific journal)

Systematic analysis of mutation distribution in three dimensional protein structures identifies cancer driver genes.

Fujimoto A, Okada Y, Boroevich KA, Tsunoda T, Taniguchi H, Nakagawa H

Scientific reports　Vol. 6　No. 1　p. 26483-26483　2016/05/26　Research paper (scientific journal)

High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.

Sun C, Molineros JE, Looger LL, Zhou XJ, Kim K, Okada Y, Ma J, Qi YY, Kim-Howard X, Motghare P, Bhattarai K, Adler A, Bang SY, Lee HS, Kim TH, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Kochi Y, Suzuki A, Kubo M, Sumida T, Yamamoto K, Lee SS, Kim YJ, Han BG, Dozmorov M, Kaufman KM, Wren JD, Harley JB, Shen N, Chua KH, Zhang H, Bae SC, Nath SK

Nature genetics　Vol. 48　No. 3　p. 323-30　2016/03　Research paper (scientific journal)

Significant impact of miRNA-target gene networks on genetics of human complex traits.

Okada Y, Muramatsu T, Suita N, Kanai M, Kawakami E, Iotchkova V, Soranzo N, Inazawa J, Tanaka T

Scientific reports　Vol. 6　No. 1　p. 22223-22223　2016/03/01　Research paper (scientific journal)

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

Imamura M, Takahashi A, Yamauchi T, Hara K, Yasuda K, Grarup N, Zhao W, Wang X, Huerta-Chagoya A, SIGMA T, D, Consortium, Hu C, Moon S, Long J, Kwak SH, Rasheed A, Saxena R, C.W. Ma R, Okada Y, Iwata M, Hosoe J, Shojima N, Iwasaki M, Fujita H, Danesh J, Jørgensen T, Jørgensen ME, Witte DR, Br, dslund I, Christensen C, Hansen T, Mercader J, Flannick J, Zhang R, Kim YJ, Zheng W, Singh JR, Tam CTH, Hirose H, Maegawa H, Ito C, Kaku K, Watada H, Tanaka Y, Tobe K, Kawamori R, Kubo M, Cho YS, Chan JCN, Sanghera D, Frossard P, Park KS, Shu XO, Kim BJ, Jia W, Tai ES, Pedersen O, Saleheen D, Maeda S†, Kadowaki T

Nature communications　Vol. 7　No. 1　p. 10531-10531　2016/01/28　Research paper (scientific journal)

Ethnically shared and heterogeneous impacts of molecular pathways suggested by the genome-wide meta-analysis of rheumatoid arthritis.

Okada Y, Raj T, Yamamoto K

Rheumatology (Oxford, England)　Vol. 55　No. 1　p. 186-9　2016/01　Research paper (scientific journal)

Loci associated with N-glycosylation of human IgG are not associated with rheumatoid arthritis: a Mendelian randomisation study.

Yarwood A, Viatte S, Okada Y, Plenge R, Yamamoto K, BRAGGSS, RACI, Barton A, Symmons D, Raychaudhuri S, Klareskog L, Gregersen P, Worthington J, Eyre S

Annals of the rheumatic diseases　Vol. 75　No. 1　p. 317-20　2016/01　Research paper (scientific journal)

Partitioning heritability by functional annotation using genome-wide association summary statistics.

Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR, ReproGen Consortium, Schizophrenia Working, Group of the, Psychiatric Genomics Consortium, RACI Consortium, Purcell S, Stahl E, Lindstrom S, Perry JR, Okada Y, Raychaudhuri S, Daly MJ, Patterson N, Neale BM†, Price AL

Nature genetics　Vol. 47　No. 11　p. 1228-35　2015/11　Research paper (scientific journal)

Interactions between amino acid-defined major histocompatibility complex class II variants and smoking in seropositive rheumatoid arthritis.

Kim K, Jiang X, Cui J, Lu B, Costenbader KH, Sparks JA, Bang SY, Lee HS, Okada Y, Raychaudhuri S, Alfredsson L, Bae SC, Klareskog L, Karlson EW

Arthritis & rheumatology (Hoboken, N.J.)　Vol. 67　No. 10　p. 2611-23　2015/10　Research paper (scientific journal)

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.

Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR†, New data, an old puzzle

International journal of epidemiology　Vol. 44　No. 5　p. 1706-21　2015/10　Research paper (scientific journal)

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

Lenz TL, Deutsch AJ, Han B, Hu X, Okada Y, Eyre S, Knapp M, Zhernakova A, Huizinga TW, Abecasis G, Becker J, Boeckxstaens GE, Chen WM, Franke A, Gladman DD, Gockel I, Gutierrez-Achury J, Martin J, Nair RP, Nöthen MM, Onengut-Gumuscu S, Rahman P, Rantapää-Dahlqvist S, Stuart PE, Tsoi LC, van Heel DA, Worthington J, Wouters MM, Klareskog L, Elder JT, Gregersen PK, Schumacher J, Rich SS, Wijmenga C, Sunyaev SR, de Bakker PI, Raychaudhuri S

Nature Genetics　Vol. 47　No. 9　p. 1085-1090　2015/09　Research paper (scientific journal)

Directional dominance on stature and cognition in diverse human populations.

Peter K Joshi, Tonu Esko, Hannele Mattsson, Niina Eklund, Ilaria Gandin, Teresa Nutile, Anne U Jackson, Claudia Schurmann, Albert V Smith, Weihua Zhang, Yukinori Okada, Alena Stančáková, Jessica D Faul, Wei Zhao, Traci M Bartz, Maria Pina Concas, Nora Franceschini, Stefan Enroth, Veronique Vitart, Stella Trompet, Xiuqing Guo, Daniel I Chasman, Jeffery R O'Connel, Tanguy Corre, Suraj S Nongmaithem, Yuning Chen, Massimo Mangino, Daniela Ruggiero, Michela Traglia, Aliki-Eleni Farmaki, Tim Kacprowski, Andrew Bjonnes, Ashley van der Spek, Ying Wu, Anil K Giri, Lisa R Yanek, Lihua Wang, Edith Hofer, Cornelius A Rietveld, Olga McLeod, Marilyn C Cornelis, Cristian Pattaro, Niek Verweij, Clemens Baumbach, Abdel Abdellaoui, Helen R Warren, Dragana Vuckovic, Hao Mei, Claude Bouchard, John R B Perry, Stefania Cappellani, Saira S Mirza, Miles C Benton, Ulrich Broeckel, Sarah E Medland, Penelope A Lind, Giovanni Malerba, Alexander Drong, Loic Yengo, Lawrence F Bielak, Degui Zhi, Peter J van der Most, Daniel Shriner, Reedik Mägi, Gibran Hemani, Tugce Karaderi, Zhaoming Wang, Tian Liu, Ilja Demuth, Jing Hua Zhao, Weihua Meng, Lazaros Lataniotis, Sander W van der Laan, Jonathan P Bradfield, Andrew R Wood, Amelie Bonnefond, Tarunveer S Ahluwalia, Leanne M Hall, Erika Salvi, Seyhan Yazar, Lisbeth Carstensen, Hugoline G de Haan, Mark Abney, Uzma Afzal, Matthew A Allison, Najaf Amin, Folkert W Asselbergs, Stephan J L Bakker, R Graham Barr, Sebastian E Baumeister, Daniel J Benjamin, Sven Bergmann, Eric Boerwinkle, Erwin P Bottinger, Archie Campbell, Aravinda Chakravarti, Yingleong Chan, Stephen J Chanock, Constance Chen, Y-D Ida Chen, Francis S Collins, John Connell, Adolfo Correa, L Adrienne Cupples, George Davey Smith, Gail Davies, Marcus Dörr, Georg Ehret, Stephen B Ellis, Bjarke Feenstra, Mary F Feitosa, Ian Ford, Caroline S Fox, Timothy M Frayling, Nele Friedrich, Frank Geller, Generation Scotland, Irina Gillham-Nasenya, Omri Gottesman, Misa Graff, Francine Grodstein, Charles 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Setten, Tuula Vasankari, Sailaja Vedantam, Efthymia Vlachopoulou, Diego Vozzi, Eero Vuoksimaa, Melanie Waldenberger, Erin B Ware, William Wentworth-Shields, John B Whitfield, Sarah Wild, Gonneke Willemsen, Chittaranjan S Yajnik, Jie Yao, Gianluigi Zaza, Xiaofeng Zhu, The BioBank Japan Project, Rany M Salem, Mads Melbye, Hans Bisgaard, Nilesh J Samani, Daniele Cusi, David A Mackey, Richard S Cooper, Philippe Froguel, Gerard Pasterkamp, Struan F A Grant, Hakon Hakonarson, Luigi Ferrucci, Robert A Scott, Andrew D Morris, Colin N A Palmer, George Dedoussis, Panos Deloukas, Lars Bertram, Ulman Lindenberger, Sonja I Berndt, Cecilia M Lindgren, Nicholas J Timpson, Anke Tönjes, Patricia B Munroe, Thorkild I A Sørensen, Charles N Rotimi, Donna K Arnett, Albertine J Oldehinkel, Sharon L R Kardia, Beverley Balkau, Giovanni Gambaro, Andrew P Morris, Johan G Eriksson, Margie J Wright, Nicholas G Martin, Steven C Hunt, John M Starr, Ian J Deary, Lyn R Griffiths, Henning Tiemeier, Nicola Pirastu, 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Hirschhorn, Markus Perola, Ozren Polašek, James F Wilson

Nature　Vol. 523　No. 7561　p. 459-462　2015/07/23　Research paper (scientific journal)

Do Genetic Susceptibility Variants Associate with Disease Severity in Early Active Rheumatoid Arthritis?

Scott IC, Rijsdijk F, Walker J, Quist J, Spain SL, Tan R, Steer S, Okada Y, Raychaudhuri S, Cope AP, Lewis CM

The Journal of rheumatology　Vol. 42　No. 7　p. 1131-40　2015/07　Research paper (scientific journal)

Construction of a population-specific HLA imputation reference panel and its application to Graves' disease risk in Japanese.

Okada Y, Momozawa Y, Ashikawa K, Kanai M, Matsuda K, Kamatani Y, Takahashi A, Kubo M

Nature genetics　Vol. 47　No. 7　p. 798-802　2015/07　Research paper (scientific journal)

Genetics of rheumatoid arthritis in Asia--present and future.

Yamamoto K, Okada Y, Suzuki A, Kochi Y

Nature reviews. Rheumatology　Vol. 11　No. 6　p. 375-9　2015/06　Research paper (scientific journal)

Anti-citrullinated peptide/protein antibody (ACPA)-negative RA shares a large proportion of susceptibility loci with ACPA-positive RA: a meta-analysis of genome-wide association study in a Japanese population.

Terao C, Ohmura K, Kochi Y, Ikari K, Okada Y, Shimizu M, Nishina N, Suzuki A, Myouzen K, Kawaguchi T, Takahashi M, Takasugi K, Murasawa A, Mizuki S, Iwahashi M, Funahashi K, Natsumeda M, Furu M, Hashimoto M, Ito H, Fujii T, Ezawa K, Matsubara T, Takeuchi T, Kubo M, Yamada R, Taniguchi A, Yamanaka H, Momohara S, Yamamoto K, Mimori T, Matsuda F

Arthritis research & therapy　Vol. 17　No. 1　p. 104-104　2015/04/18　Research paper (scientific journal)

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J, Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y, Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T, Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK, Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T, Qi L

Human molecular genetics　Vol. 24　No. 6　p. 1791-800　2015/03/15　Research paper (scientific journal)

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene

Gazal S, Sacre K, Allanore Y, Teruel M, Goodall AH, The CARDIOGENICS consortium, Tohma S, Alfredsson L, Okada Y, Xie G, Constantin A, Balsa A, Kawasaki A, Nicaise P, Amos C, Rodriguez-Rodriguez L, Chioccia G, Boileau C, Zhang J, Vittecoq O, Barnetche T, Gonzalez Gay MA, Furukawa H, Cantagrel A, Le Loët X, Sumida T, Hurtado-Nedelec M, Richez C, Chollet-Martin S, Schaeverbeke T, Combe B, Khoryati L, Coustet B, El-Benna J, Siminovitch K, Plenge R, Padyukov L, Martin J, Tsuchiya N, Dieudé P

Annals of the Rheumatic Diseases　Vol. 74　No. 3　p. e19-e19　2015/03　Research paper (scientific journal)

High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci

Kim K, Bang SY, Lee HS, Cho SK, Choi CB, Sung YK, Kim TH, Jun JB, Yoo DH, Kang YM, Kim SK, Suh CH, Shim SC, Lee SS, Lee J, Chung WT, Choe JY, Shin HD, Lee JY, Han BG, Nath SK, Eyre S, Bowes J, Pappas DA, Kremer JM, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Arlestig L, Okada Y, Diogo D, Liao KP, Karlson EW, Raychaudhuri S, Rantapää-Dahlqvist S, Martin J, Klareskog L, Padyukov L, Gregersen PK, Worthington J, Greenberg JD, Plenge RM, Bae SC

Annals of the Rheumatic Diseases　Vol. 74　No. 3　p. e13-e13　2015/03　Research paper (scientific journal)

Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.

Liu H, Irwanto A, Fu X, Yu G, Yu Y, Sun Y, Wang C, Wang Z, Okada Y, Low H, Li Y, Liany H, Chen M, Bao F, Li J, You J, Zhang Q, Liu J, Chu T, Andiappan AK, Wang N, Niu G, Liu D, Yu X, Zhang L, Tian H, Zhou G, Rotzschke O, Chen S, Zhang X, Liu J, Zhang F

Nature genetics　Vol. 47　No. 3　p. 267-71　2015/03　Research paper (scientific journal)

Genetic studies of body mass index yield new insights for obesity biology

Adam E. Locke, Bratati Kahali, Sonja I. Berndt, Anne E. Justice, Tune H. Pers, Felix R. Day, Corey Powell, Sailaja Vedantam, Martin L. Buchkovich, Jian Yang, Damien C. Croteau-Chonka, Tonu Esko, Tove Fall, Teresa Ferreira, Stefan Gustafsson, Zoltán Kutalik, Jian’an Luan, Reedik Mägi, Joshua C. Randall, Thomas W. Winkler, Andrew R. Wood, Tsegaselassie Workalemahu, Jessica D. Faul, Jennifer A. Smith, Jing Hua Zhao, Wei Zhao, Jin Chen, Rudolf Fehrmann, Åsa K. Hedman, Juha Karjalainen, Ellen M. Schmidt, Devin Absher, Najaf Amin, Denise Anderson, Marian Beekman, Jennifer L. Bolton, Jennifer L. Bragg-Gresham, Steven Buyske, Ayse Demirkan, Guohong Deng, Georg B. Ehret, Bjarke Feenstra, Mary F. Feitosa, Krista Fischer, Anuj Goel, Jian Gong, Anne U. Jackson, Stavroula Kanoni, Marcus E. Kleber, Kati Kristiansson, Unhee Lim, Vaneet Lotay, Massimo Mangino, Irene Mateo Leach, Carolina Medina-Gomez, Sarah E. Medland, Michael A. Nalls, Cameron D. Palmer, Dorota Pasko, Sonali Pechlivanis, Marjolein J. Peters, Inga Prokopenko, Dmitry Shungin, Alena Stančáková, Rona J. Strawbridge, Yun Ju Sung, Toshiko Tanaka, Alexander Teumer, Stella Trompet, Sander W. van der Laan, Jessica van Setten, Jana V. Van Vliet-Ostaptchouk, Zhaoming Wang, Loïc Yengo, Weihua Zhang, Aaron Isaacs, Eva Albrecht, Johan Ärnlöv, Gillian M. Arscott, Antony P. Attwood, Stefania Bandinelli, Amy Barrett, Isabelita N. Bas, Claire Bellis, Amanda J. Bennett, Christian Berne, Roza Blagieva, Matthias Blüher, Stefan Böhringer, Lori L. Bonnycastle, Yvonne Böttcher, Heather A. Boyd, Marcel Bruinenberg, Ida H. Caspersen, Yii-Der Ida Chen, Robert Clarke, E. Warwick Daw, Anton J. M. de Craen, Graciela Delgado, Maria Dimitriou, Alex S. F. Doney, Niina Eklund, Karol Estrada, Elodie Eury, Lasse Folkersen, Ross M. Fraser, Melissa E. Garcia, Frank Geller, Vilmantas Giedraitis, Bruna Gigante, Alan S. Go, Alain Golay, Alison H. Goodall, Scott D. Gordon, Mathias Gorski, Hans-Jörgen Grabe, Harald Grallert, Tanja B. Grammer, Jürgen Gräßler, Henrik Grönberg, Christopher J. Groves, Gaëlle Gusto, Jeffrey Haessler, Per Hall, Toomas Haller, Goran Hallmans, Catharina A. Hartman, Maija Hassinen, Caroline Hayward, Nancy L. Heard-Costa, Quinta Helmer, Christian Hengstenberg, Oddgeir Holmen, Jouke-Jan Hottenga, Alan L. James, Janina M. Jeff, Åsa Johansson, Jennifer Jolley, Thorhildur Juliusdottir, Leena Kinnunen, Wolfgang Koenig, Markku Koskenvuo, Wolfgang Kratzer, Jaana Laitinen, Claudia Lamina, Karin Leander, Nanette R. Lee, Peter Lichtner, Lars Lind, Jaana Lindström, Ken Sin Lo, Stéphane Lobbens, Roberto Lorbeer, Yingchang Lu, François Mach, Patrik K. E. Magnusson, Anubha Mahajan, Wendy L. McArdle, Stela McLachlan, Cristina Menni, Sigrun Merger, Evelin Mihailov, Lili Milani, Alireza Moayyeri, Keri L. Monda, Mario A. Morken, Antonella Mulas, Gabriele Müller, Martina Müller-Nurasyid, Arthur W. Musk, Ramaiah Nagaraja, Markus M. Nöthen, Ilja M. Nolte, Stefan Pilz, Nigel W. Rayner, Frida Renstrom, Rainer Rettig, Janina S. Ried, Stephan Ripke, Neil R. Robertson, Lynda M. Rose, Serena Sanna, Hubert Scharnagl, Salome Scholtens, Fredrick R. Schumacher, William R. Scott, Thomas Seufferlein, Jianxin Shi, Albert Vernon Smith, Joanna Smolonska, Alice V. Stanton, Valgerdur Steinthorsdottir, Kathleen Stirrups, Heather M. Stringham, Johan Sundström, Morris A. Swertz, Amy J. Swift, Ann-Christine Syvänen, Sian-Tsung Tan, Bamidele O. Tayo, Barbara Thorand, Gudmar Thorleifsson, Jonathan P. Tyrer, Hae-Won Uh, Liesbeth Vandenput, Frank C. Verhulst, Sita H. Vermeulen, Niek Verweij, Judith M. Vonk, Lindsay L. Waite, Helen R. Warren, Dawn Waterworth, Michael N. Weedon, Lynne R. Wilkens, Christina Willenborg, Tom Wilsgaard, Mary K. Wojczynski, Andrew Wong, Alan F. Wright, Qunyuan Zhang, Eoin P. Brennan, Murim Choi, Zari Dastani, Alexander W. Drong, Per Eriksson, Anders Franco-Cereceda, Jesper R. Gådin, Ali G. Gharavi, Michael E. Goddard, Robert E. Handsaker, Jinyan Huang, Fredrik Karpe, Sekar Kathiresan, Sarah Keildson, Krzysztof Kiryluk, Michiaki Kubo, Jong-Young Lee, Liming Liang, Richard P. Lifton, Baoshan Ma, Steven A. McCarroll, Amy J. McKnight, Josine L. Min, Miriam F. Moffatt, Grant W. Montgomery, Joanne M. Murabito, George Nicholson, Dale R. Nyholt, Yukinori Okada, John R. B. Perry, Rajkumar Dorajoo, Eva Reinmaa, Rany M. Salem, Niina Sandholm, Robert A. Scott, Lisette Stolk, Atsushi Takahashi, Toshihiro Tanaka, Ferdinand M. van’t Hooft, Anna A. E. Vinkhuyzen, Harm-Jan Westra, Wei Zheng, Krina T. Zondervan, Andrew C. Heath, Dominique Arveiler, Stephan J. L. Bakker, John Beilby, Richard N. Bergman, John Blangero, Pascal Bovet, Harry Campbell, Mark J. Caulfield, Giancarlo Cesana, Aravinda Chakravarti, Daniel I. Chasman, Peter S. Chines, Francis S. Collins, Dana C. Crawford, L. Adrienne Cupples, Daniele Cusi, John Danesh, Ulf de Faire, Hester M. den Ruijter, Anna F. Dominiczak, Raimund Erbel, Jeanette Erdmann, Johan G. Eriksson, Martin Farrall, Stephan B. Felix, Ele Ferrannini, Jean Ferrières, Ian Ford, Nita G. Forouhi, Terrence Forrester, Oscar H. Franco, Ron T. Gansevoort, Pablo V. Gejman, Christian Gieger, Omri Gottesman, Vilmundur Gudnason, Ulf Gyllensten, Alistair S. Hall, Tamara B. Harris, Andrew T. Hattersley, Andrew A. Hicks, Lucia A. Hindorff, Aroon D. Hingorani, Albert Hofman, Georg Homuth, G. Kees Hovingh, Steve E. Humphries, Steven C. Hunt, Elina Hyppönen, Thomas Illig, Kevin B. Jacobs, Marjo-Riitta Jarvelin, Karl-Heinz Jöckel, Berit Johansen, Pekka Jousilahti, J. Wouter Jukema, Antti M. Jula, Jaakko Kaprio, John J. P. Kastelein, Sirkka M. Keinanen-Kiukaanniemi, Lambertus A. Kiemeney, Paul Knekt, Jaspal S. Kooner, Charles Kooperberg, Peter Kovacs, Aldi T. Kraja, Meena Kumari, Johanna Kuusisto, Timo A. Lakka, Claudia Langenberg, Loic Le Marchand, Terho Lehtimäki, Valeriya Lyssenko, Satu Männistö, André Marette, Tara C. Matise, Colin A. McKenzie, Barbara McKnight, Frans L. Moll, Andrew D. Morris, Andrew P. Morris, Jeffrey C. Murray, Mari Nelis, Claes Ohlsson, Albertine J. Oldehinkel, Ken K. Ong, Pamela A. F. Madden, Gerard Pasterkamp, John F. Peden, Annette Peters, Dirkje S. Postma, Peter P. Pramstaller, Jackie F. Price, Lu Qi, Olli T. Raitakari, Tuomo Rankinen, D. C. Rao, Treva K. Rice, Paul M. Ridker, John D. Rioux, Marylyn D. Ritchie, Igor Rudan, Veikko Salomaa, Nilesh J. Samani, Jouko Saramies, Mark A. Sarzynski, Heribert Schunkert, Peter E. H. Schwarz, Peter Sever, Alan R. Shuldiner, Juha Sinisalo, Ronald P. Stolk, Konstantin Strauch, Anke Tönjes, David-Alexandre Trégouët, Angelo Tremblay, Elena Tremoli, Jarmo Virtamo, Marie-Claude Vohl, Uwe Völker, Gérard Waeber, Gonneke Willemsen, Jacqueline C. Witteman, M. Carola Zillikens, Linda S. Adair, Philippe Amouyel, Folkert W. Asselbergs, Themistocles L. Assimes, Murielle Bochud, Bernhard O. Boehm, Eric Boerwinkle, Stefan R. Bornstein, Erwin P. Bottinger, Claude Bouchard, Stéphane Cauchi, John C. Chambers, Stephen J. Chanock, Richard S. Cooper, Paul I. W. de Bakker, George Dedoussis, Luigi Ferrucci, Paul W. Franks, Philippe Froguel, Leif C. Groop, Christopher A. Haiman, Anders Hamsten, Jennie Hui, David J. Hunter, Kristian Hveem, Robert C. Kaplan, Mika Kivimaki, Diana Kuh, Markku Laakso, Yongmei Liu, Nicholas G. Martin, Winfried März, Mads Melbye, Andres Metspalu, Susanne Moebus, Patricia B. Munroe, Inger Njølstad, Ben A. Oostra, Colin N. A. Palmer, Nancy L. Pedersen, Markus Perola, Louis Pérusse, Ulrike Peters, Chris Power, Thomas Quertermous, Rainer Rauramaa, Fernando Rivadeneira, Timo E. Saaristo, Danish Saleheen, Naveed Sattar, Eric E. Schadt, David Schlessinger, P. Eline Slagboom, Harold Snieder, Tim D. Spector, Unnur Thorsteinsdottir, Michael Stumvoll, Jaakko Tuomilehto, André G. Uitterlinden, Matti Uusitupa, Pim van der Harst, Mark Walker, Henri Wallaschofski, Nicholas J. Wareham, Hugh Watkins, David R. Weir, H-Erich Wichmann, James F. Wilson, Pieter Zanen, Ingrid B. Borecki, Panos Deloukas, Caroline S. Fox, Iris M. Heid, Jeffrey R. O’Connell, David P. Strachan, Kari Stefansson, Cornelia M. van Duijn, Gonçalo R. Abecasis, Lude Franke, Timothy M. Frayling, Mark I. McCarthy, Peter M. Visscher, André Scherag, Cristen J. Willer, Michael Boehnke, Karen L. Mohlke, Cecilia M. Lindgren, Jacques S. Beckmann, Inês Barroso, Kari E. North, Erik Ingelsson, Joel N. Hirschhorn, Ruth J. F. Loos, Elizabeth K. Speliotes

Nature　Vol. 518　No. 7538　p. 197-206　2015/02/12　Research paper (scientific journal)

Systematic Comparison of Machine Learning Methods for Identification of miRNA Species as Disease Biomarkers

Chihiro Higuchi, Toshihiro Tanaka, Yukinori Okada

BIOINFORMATICS AND BIOMEDICAL ENGINEERING (IWBBIO 2015), PT II　Vol. 9044　p. 386-394　2015　Research paper (international conference proceedings)

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.

Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, Eyre S, Bowes J, Cui J, Lee A, Pappas DA, Kremer JM, Barton A, Coenen MJ, Franke B, Kiemeney LA, Mariette X, Richard-Miceli C, Canhão H, Fonseca JE, de Vries N, Tak PP, Crusius JB, Nurmohamed MT, Kurreeman F, Mikuls TR, Okada Y, Stahl EA, Larson DE, Deluca TL, O'Laughlin M, Fronick CC, Fulton LL, Kosoy R, Ransom M, Bhangale TR, Ortmann W, Cagan A, Gainer V, Karlson EW, Kohane I, Murphy SN, Martin J, Zhernakova A, Klareskog L, Padyukov L, Worthington J, Mardis ER, Seldin MF, Gregersen PK, Behrens T, Raychaudhuri S, Denny JC, Plenge RM

PloS one　Vol. 10　No. 4　2015　Research paper (scientific journal)

Genetic studies of rheumatoid arthritis.

Yamamoto K., Okada Y., Suzuki A., Kochi Y.

Proceedings of the Japan Academy. Series B, Physical and biological sciences　Vol. 91　No. 8　p. 410-22　2015　Research paper (scientific journal)

The HLA-DRβ1 amino acid positions 11-13-26 explain the majority of SLE-MHC associations.

Kwangwoo Kim, So-Young Bang, Hye-Soon Lee, Yukinori Okada, Buhm Han, Woei-Yuh Saw, Yik-Ying Teo, Sang-Cheol Bae

Nature communications　Vol. 5　p. 5902-5902　2014/12/23　Research paper (scientific journal)

Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations.

Okada Y, Kim K, Han B, Pillai NE, Ong RT, Saw WY, Luo M, Jiang L, Yin J, Bang SY, Lee HS, Brown MA, Bae SC, Xu H, Teo YY, de Bakker PI, Raychaudhuri S

Human molecular genetics　Vol. 23　No. 25　p. 6916-26　2014/12/20　Research paper (scientific journal)

Trans-ethnic meta-analysis of white blood cell phenotypes.

Keller MF, Reiner AP, Okada Y, van Rooij FJ, Johnson AD, Chen MH, Smith AV, Morris AP, Tanaka T, Ferrucci L, Zonderman AB, Lettre G, Harris T, Garcia M, Bandinelli S, Qayyum R, Yanek LR, Becker DM, Becker LC, Kooperberg C, Keating B, Reis J, Tang H, Boerwinkle E, Kamatani Y, Matsuda K, Kamatani N, Nakamura Y, Kubo M, Liu S, Dehghan A, Felix JF, Hofman A, Uitterlinden AG, van Duijn CM, Franco OH, Longo DL, Singleton AB, Psaty BM, Evans MK, Cupples LA, Rotter JI, O'Donnell CJ, Takahashi A, Wilson JG, Ganesh SK, Nalls MA†, for the CHARGE Hematology, COGENT, BioBank Japan, Project (RIKEN, Working Groups

Human molecular genetics　Vol. 23　No. 25　p. 6944-60　2014/12/20　Research paper (scientific journal)

Variation at HLA-DRB1 is associated with resistance to enteric fever.

Dunstan SJ, Hue NT, Han B, Li Z, Tram TT, Sim KS, Parry CM, Chinh NT, Vinh H, Lan NP, Thieu NT, Vinh PV, Koirala S, Dongol S, Arjyal A, Karkey A, Shilpakar O, Dolecek C, Foo JN, Phuong le T, Lanh MN, Do T, Aung T, Hon do N, Teo YY, Hibberd ML, Anders KL, Okada Y, Raychaudhuri S, Simmons CP, Baker S, de Bakker PI, Basnyat B, Hien TT, Farrar JJ, Khor CC

Nature genetics　Vol. 46　No. 12　p. 1333-6　2014/12　Research paper (scientific journal)

A role for noncoding variation in schizophrenia.

Roussos P, Mitchell AC, Voloudakis G, Fullard JF, Pothula VM, Tsang J, Stahl EA, Georgakopoulos A, Ruderfer DM, Charney A, Okada Y, Siminovitch KA, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Plenge RM, Raychaudhuri S, Fromer M, Purcell SM, Brennand KJ, Robakis NK, Schadt EE, Akbarian S, Sklar P

Cell reports　Vol. 9　No. 4　p. 1417-29　2014/11/20　Research paper (scientific journal)

From the era of genome analysis to the era of genomic drug discovery: a pioneering example of rheumatoid arthritis

Okada Y

Clinical Genetics　Vol. 86　No. 5　p. 432-440　2014/11　Research paper (scientific journal)

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

Wen W, Zheng W, Okada Y, Takeuchi F, Tabara Y, Hwang JY, Dorajoo R, Li H, Tsai FJ, Yang X, He J, Wu Y, He M, Zhang Y, Liang J, Guo X, Sheu WH, Delahanty R, Guo X, Kubo M, Yamamoto K, Ohkubo T, Go MJ, Liu JJ, Gan W, Chen CC, Gao Y, Li S, Lee NR, Wu C, Zhou X, Song H, Yao J, Lee IT, Long J, Tsunoda T, Akiyama K, Takashima N, Cho YS, Ong RT, Lu L, Chen CH, Tan A, Rice TK, Adair LS, Gui L, Allison M, Lee WJ, Cai Q, Isomura M, Umemura S, Kim YJ, Seielstad M, Hixson J, Xiang YB, Isono M, Kim BJ, Sim X, Lu W, Nabika T, Lee J, Lim WY, Gao YT, Takayanagi R, Kang DH, Wong TY, Hsiung CA, Wu IC, Juang JM, Shi J, Choi BY, Aung T, Hu F, Kim MK, Lim WY, Wang TD, Shin MH, Lee J, Ji BT, Lee YH, Young TL, Shin DH, Chun BY, Cho MC, Han BG, Hwu CM, Assimes TL, Absher D, Yan X, Kim E, Kuo JZ, Kwon S, Taylor KD, Chen YD, Rotter JI, Qi L, Zhu D, Wu T, Mohlke KL, Gu D, Mo Z, Wu JY, Lin X, Miki T, Tai ES, Lee JY, Kato N, Shu XO†, Tanaka T

Human molecular genetics　Vol. 23　No. 20　p. 5492-504　2014/10/15　Research paper (scientific journal)

Small intestinal stem cell identity is maintained with functional Paneth cells in heterotopically grafted epithelium onto the colon.

Fukuda M, Mizutani T, Mochizuki W, Matsumoto T, Nozaki K, Sakamaki Y, Ichinose S, Okada Y, Tanaka T, Watanabe M, Nakamura T

Genes & development　Vol. 28　No. 16　p. 1752-7　2014/08/15　Research paper (scientific journal)

Predicting HLA alleles from high-resolution SNP data in three Southeast Asian populations.

Pillai NE, Okada Y, Saw WY, Ong RT, Wang X, Tantoso E, Xu W, Peterson TA, Bielawny T, Ali M, Tay KY, Poh WT, Tan LW, Koo SH, Lim WY, Soong R, Wenk M, Raychaudhuri S, Little P, Plummer FA, Lee EJ, Chia KS, Luo M, De Bakker PI, Teo YY

Human molecular genetics　Vol. 23　No. 16　p. 4443-51　2014/08/15　Research paper (scientific journal)

Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes.

Okada Y, Han B, Tsoi LC, Stuart PE, Ellinghaus E, Tejasvi T, Chandran V, Pellett F, Pollock R, Bowcock AM, Krueger GG, Weichenthal M, Voorhees JJ, Rahman P, Gregersen PK, Franke A, Nair RP, Abecasis GR, Gladman DD, Elder JT, de Bakker PI, Raychaudhuri S

American journal of human genetics　Vol. 95　No. 2　p. 162-72　2014/08/07　Research paper (scientific journal)

Multiple Nonglycemic Genomic Loci Are Newly Associated With Blood Level of Glycated Hemoglobin in East Asians

Chen P, Takeuchi F, Lee JY, Li H, Wu JY, Liang J, Long J, Tabara Y, Goodarzi MO, Pereira MA, Kim YJ, Go MJ, Stram DO, Vithana E, Khor CC, Liu J, Liao J, Ye X, Wang Y, Lu L, Young TL, Lee J, Thai AC, Cheng CY, van Dam RM, Friedlander Y, Heng CK, Koh WP, Chen CH, Chang LC, Pan WH, Qi Q, Isono M, Zheng W, Cai Q, Gao Y, Yamamoto K, Ohnaka K, Takayanagi R, Kita Y, Ueshima H, Hsiung CA, Cui J, Sheu WH, Rotter JI, Chen YD, Hsu C, Okada Y, Kubo M, Takahashi A, Tanaka T, van Rooij FJ, Ganesh SK, Huang J, Huang T, Yuan J, Hwang JY, CHARGE Hematology, Working Group, Gross MD, Assimes TL, Miki T, Shu XO, Qi L, Chen YT, Lin X, Aung T, Wong TY, Teo YY, Kim BJ, Kato N, Tai ES

Diabetes　Vol. 63　No. 7　p. 2551-2562　2014/07/01　Research paper (scientific journal)

ANTI-CITRULLINATED PEPTIDE/PROTEIN ANTIBODY (ACPA)-NEGATIVE RA SHARES LARGE PROPORTION OF SUSCEPTIBILITY GENES WITH ACPA-POSITIVE RA

C. Terao, K. Ohmura, K. Ikari, Y. Kochi, Y. Okada, M. Shimizu, T. Kawaguchi, M. Takahashi, K. Myouzen, A. Suzuki, M. Kubo, R. Yamada, A. Taniguchi, H. Yamanaka, S. Momohara, K. Yamamoto, F. Matsuda, T. Mimori

ANNALS OF THE RHEUMATIC DISEASES　Vol. 73　p. 343-343　2014/06　Research paper (international conference proceedings)

Association between low density lipoprotein and rheumatoid arthritis genetic factors with low density lipoprotein levels in rheumatoid arthritis and non-rheumatoid arthritis controls

Liao KP, Diogo D, Cui J, Cai T, Okada Y, Gainer VS, Murphy SN, Gupta N, Mirel D, Ananthakrishnan AN, Szolovits P, Shaw SY, Raychaudhuri S, Churchill S, Kohane I, Karlson EW, Plenge RM

Annals of the Rheumatic Diseases　Vol. 73　No. 6　p. 1170-1175　2014/06　Research paper (scientific journal)

Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

Raj T, Rothamel K, Mostafavi S, Ye C, Lee MN, Replogle JM, Feng T, Lee M, Asinovski N, Frohlich I, Imboywa S, Von Korff A, Okada Y, Patsopoulos NA, Davis S, McCabe C, Paik HI, Srivastava GP, Raychaudhuri S, Hafler DA, Koller D, Regev A, Hacohen N, Mathis D, Benoist C, Stranger BE, De Jager PL

Science　Vol. 344　No. 6183　p. 519-523　2014/05/02　Research paper (scientific journal)

Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity.

Han B, Diogo D, Eyre S, Kallberg H, Zhernakova A, Bowes J, Padyukov L, Okada Y, González-Gay MA, Rantapää-Dahlqvist S, Martin J, Huizinga TW, Plenge RM, Worthington J, Gregersen PK, Klareskog L, de Bakker PI, Raychaudhuri S

American journal of human genetics　Vol. 94　No. 4　p. 522-32　2014/04/03　Research paper (scientific journal)

Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieudé P, Mariette X, Louis Bridges Jr S, Zhernakova A, Toes RE, Tak PP, Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Rantapää-Dahlqvist S, Arlestig L, Choi HK, Kamatani Y, Galan P, Lathrop M, the RACI consortium, the GARNET consortium, Eyre S, Bowes J, Barton A, de Vries N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R, Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L, Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H, Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K, Plenge RM

Nature　Vol. 506　No. 7488　p. 376-81　2014/02/20　Research paper (scientific journal)

Genome-wide association studies to advance our understanding of critical cell types and pathways in rheumatoid arthritis: recent findings and challenges.

Diogo D, Okada Y, Plenge RM

Current opinion in rheumatology　Vol. 26　No. 1　p. 85-92　2014/01　Research paper (scientific journal)

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

Okada Y, Diogo D, Greenberg JD, Mouassess F, Achkar WAL, Fulton RS, Denny JC, Gupta N, Mirel D, Gabriel S, Li G, Kremer JM, Pappas DA, Carroll RJ, Eyler AE, Trynka G, Stahl EA, Cui J, Saxena R, Coenen MJH, Guchelaar H, Huizinga TWJ, Dieudé P, Mariette X, Barton A, Canhão H, Fonseca JE, de Vries N, Tak PP, Moreland LW, Bridges Jr. SL, Miceli-Richard C, Choi HK, Kamatani Y, Galan P, Lathrop M, Raj T, De Jager PL, Raychaudhuri S, Worthington J, Padyukov L, Klareskog L, Siminovitch KA, Gregersen PK, Mardis ER, Arayssi T, Kazkaz LA, Plenge RM

PloS one　Vol. 9　No. 2　p. e87645-e87645　2014　Research paper (scientific journal)

Editorial: entering the age of whole-exome sequencing in rheumatic diseases: novel insights into disease pathogenicity.

Okada Y, Plenge RM

Arthritis and rheumatism　Vol. 65　No. 8　p. 1975-9　2013/08　Research paper (scientific journal)

An association analysis of HLA-DRB1 with systemic lupus erythematosus and rheumatoid arthritis in a Japanese population: effects of *09:01 allele on disease phenotypes.

Shimane K, Kochi Y, Suzuki A, Okada Y, Ishii T, Horita T, Saito K, Okamoto A, Nishimoto N, Myouzen K, Kubo M, Hirakata M, Sumida T, Takasaki Y, Yamada R, Nakamura Y, Kamatani N, Yamamoto K

Rheumatology (Oxford, England)　Vol. 52　No. 7　p. 1172-82　2013/07　Research paper (scientific journal)

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.

Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, Keller MF, Lange L, Evans M, Bottinger EP, Linderman MD, Ruderfer DM, Hakonarson H, Papanicolaou G, Zonderman AB, Gottesman O, BioBank Japan Project, CHARGE Consortium, Thomson C, Ziv E, Singleton AB, Loos RJ, Sleiman PM, Ganesh S, McCarroll S, Becker DM, Wilson JG, Lettre G, Reiner AP

Human molecular genetics　Vol. 22　No. 12　p. 2529-38　2013/06/15　Research paper (scientific journal)

Seven new loci associated with age-related macular degeneration.

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Moha, d-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA†, Heid IM, Abecasis GR, AMD Gene Consortium

Nature genetics　Vol. 45　No. 4　p. 433-9　2013/04　Research paper (scientific journal)

Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis

Cui J, Stahl EA, Saevarsdottir S, Miceli C, Diogo D, Trynka G, Raj T, Mirkov MU, Canhao H, Ikari K, Terao C, Okada Y, Wedrén S, Askling J, Yamanaka H, Momohara S, Taniguchi A, Ohmura K, Matsuda F, Mimori T, Gupta N, Kuchroo M, Morgan AW, Isaacs JD, Wilson AG, Hyrich KL, Herenius M, Doorenspleet ME, Tak PP, Crusius JB, van der Horst-Bruinsma IE, Wolbink GJ, van Riel PL, van de Laar M, Guchelaar HJ, Shadick NA, Allaart CF, Huizinga TW, Toes RE, Kimberly RP, Bridges SL Jr, Criswell LA, Moreland LW, Fonseca JE, de Vries N, Stranger BE, De Jager PL, Raychaudhuri S, Weinblatt ME, Gregersen PK, Mariette X, Barton A, Padyukov L, Coenen MJ, Karlson EW, Plenge RM

PLoS Genetics　Vol. 9　No. 3　p. e1003394-e1003394　2013/03/28　Research paper (scientific journal)

Comparative analysis in cynomolgus macaque identifies a novel human MHC locus controlling platelet blood counts independently of BAK1

Aarnink A, Garchon HJ, Okada Y, Takahashi A, Matsuda K, Kubo M, Nakamura Y, Blancher A

Journal of Thrombosis and Haemostasis　Vol. 11　No. 2　p. 384-386　2013/02　Research paper (scientific journal)

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimäki T, Woodward OM, Okada Y, Tin A, Müller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Döring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, LifeLines Cohort Study, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kähönen M, Viikari J, Hengstenberg C, Nelson CP, CARDIoGRAM Consortium, DIAGRAM Consortium, ICBP Consortium, MAGIC Consortium, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Völzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polašek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, März W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tönjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C

Nature genetics　Vol. 45　No. 2　p. 145-154　2013/02　Research paper (scientific journal)

Genome wide association study of age at menarche in the Japanese population.

Tanikawa C, Okada Y, Takahashi A, Oda K, Kamatani N, Kubo M, Nakamura Y, Matsuda K

PloS one　Vol. 8　No. 5　2013　Research paper (scientific journal)

Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

Franceschini N, van Rooij FJ, Prins BP, Feitosa MF, Karakas M, Eckfeldt JH, Folsom AR, Kopp J, Vaez A, Andrews JS, Baumert J, Boraska V, Broer L, Hayward C, Ngwa JS, Okada Y, Polasek O, Westra HJ, Wang YA, Del Greco M F, Glazer NL, Kapur K, Kema IP, Lopez LM, Schillert A, Smith AV, Winkler CA, Zgaga L, LifeLines Cohort Study, Bandinelli S, Bergmann S, Boban M, Bochud M, Chen YD, Davies G, Dehghan A, Ding J, Doering A, Durda JP, Ferrucci L, Franco OH, Franke L, Gunjaca G, Hofman A, Hsu FC, Kolcic I, Kraja A, Kubo M, Lackner KJ, Launer L, Loehr LR, Li G, Meisinger C, Nakamura Y, Schwienbacher C, Starr JM, Takahashi A, Torlak V, Uitterlinden AG, Vitart V, Waldenberger M, Wild PS, Kirin M, Zeller T, Zemunik T, Zhang Q, Ziegler A, Blankenberg S, Boerwinkle E, Borecki IB, Campbell H, Deary IJ, Frayling TM, Gieger C, Harris TB, Hicks AA, Koenig W, O' Donnell CJ, Fox CS, Pramstaller PP, Psaty BM, Reiner AP, Rotter JI, Rudan I, Snieder H, Tanaka T, van Duijn CM, Vollenweider P, Waeber G, Wilson JF, Witteman JC, Wolffenbuttel BH, Wright AF, Wu Q, Liu Y, Jenny NS, North KE, Felix JF, Alizadeh BZ, Cupples LA, Perry JR, Morris AP

American journal of human genetics　Vol. 91　No. 4　p. 744-53　2012/10/05　Research paper (scientific journal)

Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.

Myouzen K, Kochi Y, Okada Y, Terao C, Suzuki A, Ikari K, Tsunoda T, Takahashi A, Kubo M, Taniguchi A, Matsuda F, Ohmura K, Momohara S, Mimori T, Yamanaka H, Kamatani N, Yamada R, Nakamura Y, Yamamoto K

PLoS genetics　Vol. 8　No. 9　2012/09　Research paper (scientific journal)

Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations

Okada Y, Sim X, Go MJ, Wu JY, Gu D, Takeuchi F, Takahashi A, Maeda S, Tsunoda T, Chen P, Lim SC, Wong TY, Liu J, Young TL, Aung T, Seielstad M, Teo YY, Kim YJ, Lee JY, Han BG, Kang D, Chen CH, Tsai FJ, Chang LC, Fann SJ, Mei H, Rao DC, Hixson JE, Chen S, Katsuya T, Isono M, Ogihara T, Chambers JC, Zhang W, Kooner JS, KidneyGen Consortium, CKDGen Consortium, Albrecht E, GUGC consortium, Yamamoto K, Kubo M, Nakamura Y, Kamatani N, Kato N, He J, Chen YT, Cho YS, Tai ES, Tanaka T

Nature Genetics　Vol. 44　No. 8　p. 904-909　2012/08　Research paper (scientific journal)

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

Dunlop MG, Dobbins SE, Farrington SM, Jones AM, Palles C, Whiffin N, Tenesa A, Spain S, Broderick P, Ooi LY, Domingo E, Smillie C, Henrion M, Frampton M, Martin L, Grimes G, Gorman M, Semple C, Ma YP, Barclay E, Prendergast J, Cazier JB, Olver B, Penegar S, Lubbe S, Chander I, Carvajal-Carmona LG, Ballereau S, Lloyd A, Vijayakrishnan J, Zgaga L, Rudan I, Theodoratou E, Colorectal Tumour, Gene Identification, CORGI) Consortium, Starr JM, Deary I, Kirac I, Kovacević D, Aaltonen LA, Renkonen-Sinisalo L, Mecklin JP, Matsuda K, Nakamura Y, Okada Y, Gallinger S, Duggan DJ, Conti D, Newcomb P, Hopper J, Jenkins MA, Schumacher F, Casey G, Easton D, Shah M, Pharoah P, Lindblom A, Liu T, Swedish Low-Risk Colorectal Cancer, Study Group, Smith CG, West H, Cheadle JP, COIN Collaborative Group, Midgley R, Kerr DJ, Campbell H, Tomlinson IP, Houlston RS

Nature genetics　Vol. 44　No. 7　p. 770-6　2012/05/27　Research paper (scientific journal)

Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

Okada Y, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Kawaguchi T, Stahl EA, Kurreeman FA, Nishida N, Ohmiya H, Myouzen K, Takahashi M, Sawada T, Nishioka Y, Yukioka M, Matsubara T, Wakitani S, Teshima R, Tohma S, Takasugi K, Shimada K, Murasawa A, Honjo S, Matsuo K, Tanaka H, Tajima K, Suzuki T, Iwamoto T, Kawamura Y, Tanii H, Okazaki Y, Sasaki T, Gregersen PK, Padyukov L, Worthington J, Siminovitch KA, Lathrop M, Taniguchi A, Takahashi A, Tokunaga K, Kubo M, Nakamura Y, Kamatani N, Mimori T, Plenge RM, Yamanaka H, Momohara S, Yamada R, Matsuda F, Yamamoto K

Nature genetics　Vol. 44　No. 5　p. 511-6　2012/03/25　Research paper (scientific journal)

Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12.

Kurreeman FA, Stahl EA, Okada Y, Liao K, Diogo D, Raychaudhuri S, Freudenberg J, Kochi Y, Patsopoulos NA, Gupta N, CLEAR investigators, Sandor C, Bang SY, Lee HS, Padyukov L, Suzuki A, Siminovitch K, Worthington J, Gregersen PK, Hughes LB, Reynolds RJ, Bridges SL Jr, Bae SC, Yamamoto K, Plenge RM

American journal of human genetics　Vol. 90　No. 3　p. 524-32　2012/03/09　Research paper (scientific journal)

Reply

Okada Y, Kubo M

Gastroenterology　Vol. 142　No. 3　p. e28-e29　2012/03　Research paper (scientific journal)

Common genetic factors for hematological traits in humans.

Okada Y, Kamatani Y

Journal of human genetics　Vol. 57　No. 3　p. 161-9　2012/03　Research paper (scientific journal)

Meta-analysis identifies common variants associated with body mass index in east Asians

Wen W, Cho YS, Zheng W, Dorajoo R, Kato N, Qi L, Chen CH, Delahanty RJ, Okada Y, Tabara Y, Gu D, Zhu D, Haiman CA, Mo Z, Gao YT, Saw SM, Go MJ, Takeuchi F, Chang LC, Kokubo Y, Liang J, Hao M, Le Marchand L, Zhang Y, Hu Y, Wong TY, Long J, Han BG, Kubo M, Yamamoto K, Su MH, Miki T, Henderson BE, Song H, Tan A, He J, Ng DP, Cai Q, Tsunoda T, Tsai FJ, Iwai N, Chen GK, Shi J, Xu J, Sim X, Xiang YB, Maeda S, Ong RT, Li C, Nakamura Y, Aung T, Kamatani N, Liu JJ, Lu W, Yokota M, Seielstad M, Fann CS, Genetic Investigation of, ANthropometric Traits, GIANT) Consortium, Wu JY, Lee JY, Hu FB, Tanaka T, Tai ES, Shu XO

Nature Genetics　Vol. 44　No. 3　p. 307-311　2012/03　Research paper (scientific journal)

Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.

Okada Y, Kubo M, Ohmiya H, Takahashi A, Kumasaka N, Hosono N, Maeda S, Wen W, Dorajoo R, Go MJ, Zheng W, Kato N, Wu JY, Lu Q, GIANT consortium, Tsunoda T, Yamamoto K, Nakamura Y, Kamatani N, Tanaka T

Nature genetics　Vol. 44　No. 3　p. 302-6　2012/02/19　Research paper (scientific journal)

A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese

Okada Y, Shimane K, Kochi Y, Tahira T, Suzuki A, Higasa K, Takahashi A, Horita T, Atsumi T, Ishii T, Okamoto A, Fujio K, Hirakata M, Amano H, Kondo Y, Ito S, Takada K, Mimori A, Saito K, Kamachi M, Kawaguchi Y, Ikari K, Mohammed OW, Matsuda K, Terao C, Ohmura K, Myouzen K, Hosono N, Tsunoda T, Nishimoto N, Mimori T, Matsuda F, Tanaka Y, Sumida T, Yamanaka H, Takasaki Y, Koike T, Horiuchi T, Hayashi K, Kubo M, Kamatani N, Yamada R, Nakamura Y, Yamamoto K

PLoS Genetics　Vol. 8　No. 1　p. e1002455-e1002455　2012/01/26　Research paper (scientific journal)

A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

Urabe Y, Tanikawa C, Takahashi A, Okada Y, Morizono T, Tsunoda T, Kamatani N, Kohri K, Chayama K, Kubo M, Nakamura Y, Matsuda K

PLoS genetics　Vol. 8　No. 3　2012　Research paper (scientific journal)

Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.

Osman W, Okada Y, Kamatani Y, Kubo M, Matsuda K, Nakamura Y

PloS one　Vol. 7　No. 4　2012　Research paper (scientific journal)

Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.

Kumasaka N, Aoki M, Okada Y, Takahashi A, Ozaki K, Mushiroda T, Hirota T, Tamari M, Tanaka T, Nakamura Y, Kamatani N, Kubo M

PloS one　Vol. 7　No. 9　2012　Research paper (scientific journal)

Insight from genome-wide association studies in rheumatoid arthritis and multiple sclerosis

Suzuki A, Kochi Y, Okada Y, Yamamoto K

FEBS Letters　Vol. 585　No. 23　p. 3627-3632　2011/12/01　Research paper (scientific journal)

PlatinumCNV: a Bayesian Gaussian mixture model for genotyping copy number polymorphisms using SNP array signal intensity data.

Kumasaka N, Fujisawa H, Hosono N, Okada Y, Takahashi A, Nakamura Y, Kubo M, Kamatani N

Genetic epidemiology　Vol. 35　No. 8　p. 831-44　2011/12　Research paper (scientific journal)

New gene functions in megakaryopoiesis and platelet formation.

Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R, Meacham S, Okada Y, Pirastu N, Sorice R, Teumer A, Voss K, Zhang W, Ramirez-Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, O'Reilly PF, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, Ellen van der, Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, D'Adamo P, Davies G, de Boer RA, de Geus EJ, Döring A, Elliott P, Erdmann J, Evans DM, Falchi M, Feng W, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lloyd-Jones H, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nakamura Y, Nauck M, Navis G, Nöthlings U, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Tang WH, Taylor K, Tenesa A, Lay Thein S, Tönjes A, Uda M, Ulivi S, van Veldhuisen DJ, Visscher PM, Völker U, Wichmann HE, Wiggins KL, Willemsen G, Yang TP, Hua Zhao J, Zitting P, Bradley JR, Dedoussis GV, Gasparini P, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, Joost van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Rendon A, Ferreira MA, Ouwehand WH†, Soranzo

Nature　Vol. 480　No. 7376　p. 201-8　2011/11/30　Research paper (scientific journal)

Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits

Kim YJ, Go MJ, Hu C, Hong CB, Kim YK, Lee JY, Hwang JY, Oh JH, Kim DJ, Kim NH, Kim S, Hong EJ, Kim JH, Min H, Kim Y, Zhang R, Jia W, Okada Y, Takahashi A, Kubo M, Tanaka T, Kamatani N, Matsuda K, MAGIC consortium, Park T, Oh B, Kimm K, Kang D, Shin C, Cho NH, Kim HL, Han BG, Lee JY, Cho YS

Nature Genetics　Vol. 43　No. 10　p. 990-995　2011/11　Research paper (scientific journal)

HLA-Cw*1202-B*5201-DRB1*1502 Haplotype Increases Risk for Ulcerative Colitis but Reduces Risk for Crohn's Disease

Okada Y, Yamazaki K, Umeno J, Takahashi A, Kumasaka N, Ashikawa K, Aoi T, Takazoe M, Matsui T, Hirano A, Matsumoto T, Kamatani N, Nakamura Y, Yamamoto K, Kubo M

Gastroenterology　Vol. 141　No. 3　p. 864-871.e5　2011/09　Research paper (scientific journal)

The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population

Terao C, Yamada R, Ohmura K, Takahashi M, Kawaguchi T, Kochi Y, Human Disease, Genomics Working Group, RA Clinical, Genetic Study Consortium, Okada Y, Nakamura Y, Yamamoto K, Melchers I, Lathrop M, Mimori T, Matsuda F

Human Molecular Genetics　Vol. 20　No. 13　p. 2680-2685　2011/07/01　Research paper (scientific journal)

Identification of Nine Novel Loci Associated with White Blood Cell Subtypes in a Japanese Population

Okada Y, Hirota T, Kamatani Y, Takahashi A, Ohmiya H, Kumasaka N, Higasa K, Yamaguchi-Kabata Y, Hosono N, Nalls MA, Chen MH, van Rooij FJ, Smith AV, Tanaka T, Couper DJ, Zakai NA, Ferrucci L, Longo DL, Hernandez DG, Witteman JC, Harris TB, O'Donnell CJ, Ganesh SK, Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y, Tamari M, Yamamoto K, Kamatani N

PLoS Genetics　Vol. 7　No. 6　p. e1002067-e1002067　2011/06/30　Research paper (scientific journal)

Genome-Wide Association Study of White Blood Cell Count in 16,388 African Americans: the Continental Origins and Genetic Epidemiology Network (COGENT)

Reiner AP, Lettre G, Nalls MA, Ganesh SK, Mathias R, Austin MA, Dean E, Arepalli S, Britton A, Chen Z, Couper D, Curb JD, Eaton CB, Fornage M, Grant SF, Harris TB, Hernandez D, Kamatini N, Keating BJ, Kubo M, LaCroix A, Lange LA, Liu S, Lohman K, Meng Y, Mohler ER, Musani S, Nakamura Y, O'Donnell CJ, Okada Y, Palmer CD, Papanicolaou GJ, Patel KV, Singleton AB, Takahashi A, Tang H, Taylor HA Jr, Taylor K, Thomson C, Yanek LR, Yang L, Ziv E, Zonderman AB, Folsom AR, Evans MK, Liu Y, Becker DM, Snively BM, Wilson JG

PLoS Genetics　Vol. 7　No. 6　p. e1002108-e1002108　2011/06/30　Research paper (scientific journal)

Multiple Loci Are Associated with White Blood Cell Phenotypes

Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M, Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou V, Felix JF, Völzke H, Gouskova NA, Biffi A, Döring A, Völker U, Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C, Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL, Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M, Tönjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B, Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S, Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK

PLoS Genetics　Vol. 7　No. 6　p. e1002113-e1002113　2011/06/30　Research paper (scientific journal)

Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population

R. Cui, Y. Okada, S. G. Jang, J. L. Ku, J. G. Park, Y. Kamatani, N. Hosono, T. Tsunoda, V. Kumar, C. Tanikawa, N. Kamatani, R. Yamada, M. Kubo, Y. Nakamura, K. Matsuda

Gut　Vol. 60　No. 6　p. 799-805　2011/06/01　Research paper (scientific journal)

Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus

Okada Y, Takahashi A, Ohmiya H, Kumasaka N, Kamatani Y, Hosono N, Tsunoda T, Matsuda K, Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N

Human Molecular Genetics　Vol. 20　No. 6　p. 1224-1231　2011/03/15　Research paper (scientific journal)

PADI4 polymorphism predisposes male smokers to rheumatoid arthritis

Kochi Y, Thabet MM, Suzuki A, Okada Y, Daha NA, Toes RE, Huizinga TW, Myouzen K, Kubo M, Yamada R, Nakamura Y, Yamamoto K

Annals of the Rheumatic Diseases　Vol. 70　No. 3　p. 512-515　2011/03　Research paper (scientific journal)

Recruitment of phosphorylated NPM1 to sites of DNA damage through RNF8-dependent ubiquitin conjugates.

Ayaka Koike, Hiroyuki Nishikawa, Wenwen Wu, Yukinori Okada, Ashok R Venkitaraman, Tomohiko Ohta

Cancer research　Vol. 70　No. 17　p. 6746-56　2010/09/01　Research paper (scientific journal)

HLA-DRB1*0901 lowers anti-cyclic citrullinated peptide antibody levels in Japanese patients with rheumatoid arthritis

Y. Okada, A. Suzuki, R. Yamada, Y. Kochi, K. Shimane, K. Myouzen, M. Kubo, Y. Nakamura, K. Yamamoto

Annals of the Rheumatic Diseases　Vol. 69　No. 8　p. 1569-1570　2010/08/01　Research paper (scientific journal)

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N

Human Molecular Genetics　Vol. 19　No. 11　p. 2303-2312　2010/06/01　Research paper (scientific journal)

Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus

Myouzen K, Kochi Y, Shimane K, Fujio K, Okamura T, Okada Y, Suzuki A, Atsumi T, Ito S, Takada K, Mimori A, Ikegawa S, Yamada R, Nakamura Y, Yamamoto K

Human Molecular Genetics　Vol. 19　No. 11　p. 2313-2320　2010/06/01　Research paper (scientific journal)

A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility

Kochi Y, Okada Y, Suzuki A, Ikari K, Terao C, Takahashi A, Yamazaki K, Hosono N, Myouzen K, Tsunoda T, Kamatani N, Furuichi T, Ikegawa S, Ohmura K, Mimori T, Matsuda F, Iwamoto T, Momohara S, Yamanaka H, Yamada R, Kubo M, Nakamura Y, Yamamoto K

Nature Genetics　Vol. 42　No. 6　p. 515-519　2010/06　Research paper (scientific journal)

Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.

Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N

Human molecular genetics　Vol. 19　No. 10　p. 2079-85　2010/05/15　Research paper (scientific journal)

Genome-wide association study of hematological and biochemical traits in a Japanese population

Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura Y, Kamatani N

Nature Genetics　Vol. 42　No. 3　p. 210-215　2010/03　Research paper (scientific journal)

Contribution of a haplotype in the HLA region to anti-cyclic citrullinated peptide antibody positivity in rheumatoid arthritis, independently of HLA-DRB1

Okada Y, Yamada R, Suzuki A, Kochi Y, Shimane K, Myouzen K, Kubo M, Nakamura Y, Yamamoto K

Arthritis & Rheumatism　Vol. 60　No. 12　p. 3582-3590　2009/12　Research paper (scientific journal)

A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population

K Shimane, Y Kochi, R Yamada, Y Okada, A Suzuki, A Miyatake, M Kubo, Y Nakamura, K Yamamoto

Annals of the Rheumatic Diseases　Vol. 68　No. 3　p. 377-383　2009/03　Research paper (scientific journal)

An optimal dose-effect mode trend test for SNP genotype tables

Yamada R, Okada Y

Genetic Epidemiology　Vol. 33　No. 2　p. 114-127　2009/02　Research paper (scientific journal)

Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.

Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, Kamatani Y, Mori M, Shimane K, Hirabayashi Y, Takahashi A, Tsunoda T, Miyatake A, Kubo M, Kamatani N, Nakamura Y, Yamamoto K

Nature genetics　Vol. 40　No. 10　p. 1224-1229　2008/10　Research paper (scientific journal)

SLC22A4 polymorphism and rheumatoid arthritis susceptibility: a replication study in a Japanese population and a metaanalysis

Okada Y, Mori M, Yamada R, Suzuki A, Kobayashi K, Kubo M, Nakamura Y, Yamamoto K

The Journal of Rheumatology　Vol. 35　No. 9　p. 1723-1728　2008/09　Research paper (scientific journal)

Unified model of association-induced lower critical solution temperature phase separation and its application to solutions of telechelic poly(ethylene oxide) and of telechelic poly(N-isopropylacrylamide) in water

Okada Y, Tanaka F, Piotr Kujawa, Françoise M. Winnik

The Journal of Chemical Physics　Vol. 125　No. 24　p. 244902-244902　2006/12/28　Research paper (scientific journal)

The longitudinal effects of the "Green Revolution" on the infant mortality rate in rural Thailand

Okada Y, Wakai S

Japan Medical Association Journal　Vol. 49　p. 236-242　2006