RT Journal Article
SR Electronic
T1 Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 795948
DO 10.1101/795948
A1 Kazuyoshi Ishigaki
A1 Masato Akiyama
A1 Masahiro Kanai
A1 Atsushi Takahashi
A1 Eiryo Kawakami
A1 Hiroki Sugishita
A1 Saori Sakaue
A1 Nana Matoba
A1 Siew-Kee Low
A1 Yukinori Okada
A1 Chikashi Terao
A1 Tiffany Amariuta
A1 Steven Gazal
A1 Yuta Kochi
A1 Momoko Horikoshi
A1 Ken Suzuki
A1 Kaoru Ito
A1 Yukihide Momozawa
A1 Makoto Hirata
A1 Koichi Matsuda
A1 Masashi Ikeda
A1 Nakao Iwata
A1 Shiro Ikegawa
A1 Ikuyo Kou
A1 Toshihiro Tanaka
A1 Hidewaki Nakagawa
A1 Akari Suzuki
A1 Tomomitsu Hirota
A1 Mayumi Tamari
A1 Kazuaki Chayama
A1 Daiki Miki
A1 Masaki Mori
A1 Satoshi Nagayama
A1 Yataro Daigo
A1 Yoshio Miki
A1 Toyomasa Katagiri
A1 Osamu Ogawa
A1 Wataru Obara
A1 Hidemi Ito
A1 Teruhiko Yoshida
A1 Issei Imoto
A1 Takashi Takahashi
A1 Chizu Tanikawa
A1 Takao Suzuki
A1 Nobuaki Sinozaki
A1 Shiro Minami
A1 Hiroki Yamaguchi
A1 Satoshi Asai
A1 Yasuo Takahashi
A1 Ken Yamaji
A1 Kazuhisa Takahashi
A1 Tomoaki Fujioka
A1 Ryo Takata
A1 Hideki Yanai
A1 Akihide Masumoto
A1 Yukihiro Koretsune
A1 Hiromu Kutsumi
A1 Masahiko Higashiyama
A1 Shigeo Murayama
A1 Naoko Minegishi
A1 Kichiya Suzuki
A1 Kozo Tanno
A1 Atsushi Shimizu
A1 Taiki Yamaji
A1 Motoki Iwasaki
A1 Norie Sawada
A1 Hirokazu Uemura
A1 Keitaro Tanaka
A1 Mariko Naito
A1 Makoto Sasaki
A1 Kenji Wakai
A1 Shoichiro Tsugane
A1 Masayuki Yamamoto
A1 Kazuhiko Yamamoto
A1 Yoshinori Murakami
A1 Yusuke Nakamura
A1 Soumya Raychaudhuri
A1 Johji Inazawa
A1 Toshimasa Yamauchi
A1 Takashi Kadowaki
A1 Michiaki Kubo
A1 Yoichiro Kamatani
YR 2019
UL http://biorxiv.org/content/early/2019/10/08/795948.abstract
AB The overwhelming majority of participants in current genetic studies are of European ancestry1–3, limiting our genetic understanding of complex disease in non-European populations. To address this, we aimed to elucidate polygenic disease biology in the East Asian population by conducting a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 383 independent signals in 331 loci for 30 diseases, among which 45 loci were novel (P < 5 × 10−8). Compared with known variants, novel variants have lower frequency in European populations but comparable frequency in East Asian populations, suggesting the advantage of this study in discovering these novel variants. Three novel signals were in linkage disequilibrium (r2 > 0.6) with missense variants which are monomorphic in European populations (1000 Genomes Project) including rs11235604(p.R220W of ATG16L2, a autophagy-related gene) associated with coronary artery disease. We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, andidentified 378 significant enrichments across nine diseases (FDR < 0.05) (e.g. NF-κB for immune-related diseases). This large-scale GWAS in a Japanese population provides insights into the etiology of common complex diseases and highlights the importance of performing GWAS in non-European populations.