研究成果・広報活動
研究成果一覧
学術論文 2020年
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
Bakker MK, van der Spek RAA, van Rheenen W, Morel S, Bourcier R, Hostettler IC, Alg VS, van Eijk KR, Koido M, Akiyama M, Terao C, Matsuda K, Walters RG, Lin K, Li L, Millwood IY, Chen Z, Rouleau GA, Zhou S, Rannikmäe K, Sudlow CLM, Houlden H, van den Berg LH, Dina C, Naggara O, Gentric JC, Shotar E, Eugène F, Desal H, Winsvold BS, Børte S, Johnsen MB, Brumpton BM, Sandvei MS, Willer CJ, Hveem K, Zwart JA, Verschuren WMM, Friedrich CM, Hirsch S, Schilling S, Dauvillier J, Martin O; HUNT All-In Stroke; China Kadoorie Biobank Collaborative Group; BioBank Japan Project Consortium; ICAN Study Group; CADISP Group; Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators; International Stroke Genetics Consortium (ISGC), Jones GT, Bown MJ, Ko NU, Kim H, Coleman JRI, Breen G, Zaroff JG, Klijn CJM, Malik R, Dichgans M, Sargurupremraj M, Tatlisumak T, Amouyel P, Debette S, Rinkel GJE, Worrall BB, Pera J, Slowik A, Gaál-Paavola EI, Niemelä M, Jääskeläinen JE, von Und Zu Fraunberg M, Lindgren A, Broderick JP, Werring DJ, Woo D, Redon R, Bijlenga P, Kamatani Y, Veldink JH, Ruigrok YM.
PMID:33199917
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.
PMID:32533944
All-cause and cardiovascular disease mortality in underweight patients with diabetic nephropathy: BioBank Japan cohort.
Yokomichi H, Mochizuki M, Hirata M, Nagai A, Kojima R, Horiuchi S, Ooka T, Akiyama Y, Shinohara R, Miyake K; BioBank Japan Project, Yamagata Z.
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.
HLA-B*51:01 and CYP2C9*3 Are Risk Factors for Phenytoin-Induced Eruption in the Japanese Population: Analysis of Data From the Biobank Japan Project.
Hikino K, Ozeki T, Koido M, Terao C, Kamatani Y, Mizukawa Y, Shiohara T, Tohyama M, Azukizawa H, Aihara M, Nihara H, Morita E, Murakami Y, Kubo M, Mushiroda T.
SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure.
Matsuura R, Hiraishi A, Holzman LB, Hanayama H, Harano K, Nakamura E, Hamasaki Y, Doi K, Nangaku M, Noiri E.
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.
Cause-specific mortality rates in patients with diabetes according to comorbid macro- and microvascular complications: BioBank Japan Cohort.
Yokomichi H, Nagai A, hi M, Mochizuki M, Kojima R, Yamagata Z; BioBank Japan Project.
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, 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.
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, 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.
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease.
Curry JN, Saurette M, Askari M, Pei L, Filla MB, Beggs MR, Rowe PS, Fields T, Sommer AJ, Tanikawa C, Kamatani Y, Evan AP, Totonchi M, Alexander RT, Matsuda K, Yu AS.
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.
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.
Endogenization and excision of human herpesvirus 6 in human genomes.
Liu X, Kosugi S, Koide R, Kawamura Y, Ito J, Miura H, Matoba N, Matsuzaki M, Fujita M, Kamada AJ, Nakagawa H, Tamiya G, Matsuda K, Murakami Y, Kubo M, Aswad A, Sato K, Momozawa Y, Ohashi J, Terao C, Yoshikawa T, Parrish NF, Kamatani Y.
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N, Hayashi N, Yokoi D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Kanai K, Hattori N, Morita M, Taniguchi A, Kano O, Oda M, Shibuya K, Kuwabara S, Suzuki N, Aoki M, Ohta Y, Yamashita T, Abe K, Hashimoto R, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Okada Y, Ishihara T, Onodera O, Nakashima K, Kaji R, Kamatani Y, Ikegawa S, Momozawa Y, Kubo M, Ishida N, Minegishi N, Nagasaki M, Sobue G.
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes
Keijiro Mizukami, Yusuke Iwasaki, Eiryo Kawakami, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Mikiko Endo, Kokichi Sugano, Teruhiko Yoshida, Yoshinori Murakami, Hidewaki Nakagawa, Amanda B. Spurdle, Yukihide Momozawa
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease
Satoshi Koyama, Kaoru Ito, Chikashi Terao, Masato Akiyama, Momoko Horikoshi, Yukihide Momozawa, Hiroshi Matsunaga, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Atsushi Takahashi, Seitaro Nomura, Hiroyuki Morita, Hiroshi Akazawa, Changhoon Kim, Jeong-sun Seo, Koichiro Higasa, Motoki Iwasaki, Taiki Yamaji, Norie Sawada, Shoichiro Tsugane, Teruhide Koyama, Hiroaki Ikezaki, Naoyuki Takashima, Keitaro Tanaka,Kokichi Arisawa, Kiyonori Kuriki, Mariko Naito, Kenji Wakai, Shinichiro Suna, Yasuhiko Sakata, Hiroshi Sato, Masatsugu Hori, Yasushi Sakata, Koichi Matsuda, Yoshinori Murakami, Hiroyuki Aburatani, Michiaki Kubo, Fumihiko Matsuda, Yoichiro Kamatani, and Issei Komuro
Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.
Yuya Shirai1,2,#, Suguru Honda3,#, Katsunori Ikari3, Masahiro Kanai1,4, Yoshito Takeda2, Yoichiro Kamatani5,6, Takayuki Morisaki7,8, Eiichi Tanaka3, Atsushi Kumanogoh2,9,10, Masayoshi Harigai3, Yukinori Okada1,6,10,11,*.
Chromosomal alterations among age-related haematopoietic clones in Japan
Terao C, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCarroll SA, Kubo M, Loh PR, Kamatani Y.
Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease
Hiroshi Matsunaga, Kaoru Ito, Masato Akiyama, Atsushi Takahashi, Satoshi Koyama, Seitaro Nomura, Hirotaka Ieki, Kouichi Ozaki, Yoshihiro Onouchi, Saori Sakaue, Shinichiro Suna, Soichi Ogishima, Masayuki Yamamoto, Atsushi Hozawa, Mamoru Satoh, Makoto Sasaki, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Keitaro Tanaka, Kokichi Arisawa, Hiroaki Ikezaki, Naoyuki Takashima, Mariko Naito, Kenji Wakai, Hideo Tanaka, Yasuhiko Sakata, Hiroyuki Morita, Yasushi Sakata, Koichi Matsuda, Yoshinori Murakami, Hiroshi Akazawa, Michiaki Kubo, Yoichiro Kamatani and Issei Komuro
Large-scale Genome-Wide Association Study in a Japanese Population Identifies Novel Susceptibility Loci Across Different Diseases
Ishigaki K, Akiyama M, Kanai M, et al. Large-scale Genome-Wide Association Study in a Japanese Population Identifies Novel Susceptibility Loci Across Different Diseases. Nat Genet. 2020. doi: 10.1038/s41588-020-0640-3.
Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.
Sakaue S, Hirata J, Kanai M, et al. Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction. Nat Commun. 2020;11(1):1569. doi: 10.1038/ s41467-020-15194-z.
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, et al. Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. Nat Med . 2020. doi: 10.1038/s41591-020-0785-8.
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population
Kenichi Yamamoto1,2, Saori Sakaue1,3,4, Koichi Matsuda5, Yoshinori Murakami6, Yoichiro Kamatani3,7, Keiichi Ozono2, Yukihide Momozawa8, Yukinori Okada
Identification of type 2 diabetes loci in 433,540 East Asian individuals
Cassandra N Spracklen†, Momoko Horikoshi†, Young Jin Kim†, Kuang Lin†, Fiona Bragg Sanghoon Moon, Ken Suzuki, Claudia HT Tam, Yasuharu Tabara, Soo-Heon Kwak, Fumihiko Takeuchi, Jirong Long, Victor JY Lim, Jin-Fang Chai, Chien-Hsiun Chen, Masahiro Nakatochi, Jie Yao, Hyeok Sun Choi, Apoorva K Iyengar, Hannah J Perrin, Sarah M Brotman, Martijn van de Bunt, Anna L Gloyn, Jennifer E Below, Michael Boehnke, Donald W Bowden, John C Chambers, Anubha Mahajan, Mark I McCarthy, Maggie CY Ng, Lauren E Petty, Weihua Zhang, Andrew P Morris, Linda S Adair, Masato Akiyama, Zheng Bian, Juliana CN Chan, Li-Ching Chang, Miao-Li Chee, Yii-Der Ida Chen, Yuan-Tsong Chen, Zhengming Chen, Lee-Ming Chuang, Shufa Du, Penny Gordon-Larsen, Myron Gross, Xiuqing Guo, Yu Guo, Sohee Han, Annie-Green Howard, Wei Huang, Yi-Jen Hung, Mi Yeong Hwang, Chii-Min Hwu, Sahoko Ichihara, Masato Isono, Hye-Mi Jang, Guozhi Jiang, Jost B Jonas, Yoichiro Kamatani, Tomohiro Katsuya, Takahisa Kawaguchi, Chiea-Chuen Khor, Katsuhiko Kohara, Myung-Shik Lee, Nannette R Lee, Liming Li, Jianjun Liu, Andrea O Luk, Jun Lv, Yukinori Okada, Mark A Pereira, Charumathi Sabanayagam, Jinxiu Shi, Dong Mun Shin, Wing Yee So, Atsushi Takahashi, Brian Tomlinson, Fuu-Jen Tsai, Rob M van Dam, Yong-Bing Xiang, Ken Yamamoto, Toshimasa Yamauchi, Kyungheon Yoon, Canqing Yu, Jian-Min Yuan, Liang Zhang, Wei Zheng, Michiya Igase, Yoon Shin Cho, Jerome I Rotter, Ya-Xing Wang, Wayne HH Sheu, Mitsuhiro Yokota, Jer-Yuarn Wu, Ching-Yu Cheng, Tien-Yin Wong, Xiao-Ou Shu, Norihiro Kato, Kyong-Soo Park, E-Shyong Tai, Fumihiko Matsuda, Woon-Puay Koh, Ronald CW Ma, Shiro Maeda, Iona Y Millwood, Juyoung Lee, Takashi Kadowaki*, Robin G Walters*, Bong-Jo Kim*, Karen L Mohlke*, and Xueling Sim*
Prevalence and spectrum of pathogenic germline variants in Japanese patients with early-onset colorectal, breast, and prostate cancer
Xiaoxi Liu, Sadaaki Takata, Kyota Ashikawa, Tomomi Aoi, Shunichi Kosugi, Chikashi Terao, Nicholas F. Parrish, Koichi Matsuda, Hidewaki Nakagawa, Yoichiro Kamatani, Michiaki Kubo, Yukihide Momozawa
GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits.
Matoba N, Akiyama M, Ishigaki K, et al. GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits. Nat Hum Behav. 2020. doi: 10.1038/s41562-019-0805-1.
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population.
Sakai K, Tanikawa C, Hirasawa A, et al. Identification of a novel uterine leiomyoma GWAS locus in a Japanese population. Sci Rep. 2020;10(1):1197-8. doi: 10.1038/s41598-020-58066-8.
GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits.
Matoba N, Akiyama M, Ishigaki K, et al. GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits. Nat Hum Behav. 2020. doi: 10.1038/s41562-019-0805-1.
Genome-wide natural selection signatures are linked to genetic risk of modern phenotypes in the Japanese population.
Yasumizu Y, Sakaue S, Konuma T, et al. Genome-wide natural selection signatures are linked to genetic risk of modern phenotypes in the Japanese population. Mol Biol Evol. 2020. doi: 10.1093/molbev/msaa005.
Diabetes and cancer risk: A Mendelian randomization study.
Goto A, Yamaji T, Sawada N, et al. Diabetes and cancer risk: A Mendelian randomization study. Int J Cancer. 2020;146(3):712-719. doi: 10.1002/ijc.32310.
GWAS of five gynecologic diseases and cross-trait analysis in Japanese.
Masuda T, Low SK, Akiyama M, et al. GWAS of five gynecologic diseases and cross-trait analysis in Japanese. Eur J Hum Genet. 2020;28(1):95-107. doi: 10.1038/s41431-019-0495-1.
