| Literature DB >> 32514122 |
Soumya Raychaudhuri1,2,3,4,5, Johji Inazawa6,7, Toshimasa Yamauchi8, Takashi Kadowaki9, Michiaki Kubo10, Yoichiro Kamatani11,12, Kazuyoshi Ishigaki13,14,15,16, Masato Akiyama13,17, Masahiro Kanai13,16,18, Atsushi Takahashi13,19, Eiryo Kawakami20,21,22, Hiroki Sugishita21, Saori Sakaue13,23,24, Nana Matoba13,25, Siew-Kee Low13,26, Yukinori Okada13,23,27,28, Chikashi Terao29, Tiffany Amariuta14,15,16,18,30, Steven Gazal16,31, Yuta Kochi32,33, Momoko Horikoshi34, Ken Suzuki13,23,34,35, Kaoru Ito36, Satoshi Koyama36, Kouichi Ozaki37, Shumpei Niida37, Yasushi Sakata38, Yasuhiko Sakata39, Takashi Kohno40, Kouya Shiraishi40, Yukihide Momozawa41, Makoto Hirata42, Koichi Matsuda43, Masashi Ikeda44, Nakao Iwata44, Shiro Ikegawa45, Ikuyo Kou45, Toshihiro Tanaka46,47, Hidewaki Nakagawa48, Akari Suzuki32, Tomomitsu Hirota49, Mayumi Tamari49, Kazuaki Chayama50, Daiki Miki50, Masaki Mori51, Satoshi Nagayama52, Yataro Daigo53,54, Yoshio Miki55, Toyomasa Katagiri56, Osamu Ogawa57, Wataru Obara58, Hidemi Ito59,60, Teruhiko Yoshida61, Issei Imoto62,63,64, Takashi Takahashi65, Chizu Tanikawa66, Takao Suzuki67, Nobuaki Sinozaki67, Shiro Minami68, Hiroki Yamaguchi69, Satoshi Asai70,71, Yasuo Takahashi71, Ken Yamaji72, Kazuhisa Takahashi73, Tomoaki Fujioka58, Ryo Takata58, Hideki Yanai74, Akihide Masumoto75, Yukihiro Koretsune76, Hiromu Kutsumi77, Masahiko Higashiyama78, Shigeo Murayama79, Naoko Minegishi80, Kichiya Suzuki80, Kozo Tanno81, Atsushi Shimizu81, Taiki Yamaji82, Motoki Iwasaki82, Norie Sawada82, Hirokazu Uemura83,84, Keitaro Tanaka85, Mariko Naito86,87, Makoto Sasaki81, Kenji Wakai86, Shoichiro Tsugane88, Masayuki Yamamoto80, Kazuhiko Yamamoto32, Yoshinori Murakami89, Yusuke Nakamura90.
Abstract
The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 320 independent signals in 276 loci for 27 diseases, with 25 novel loci (P < 9.58 × 10-9). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully replicated two of them by analyzing independent Japanese cohorts; p.R220W of ATG16L2 (associated with coronary artery disease) and p.V326A of POT1 (associated with lung cancer). We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, and identified 378 significant enrichments across nine diseases (false discovery rate < 0.05) (for example, NKX3-1 for prostate cancer). This large-scale GWAS in a Japanese population provides insights into the etiology of complex diseases and highlights the importance of performing GWAS in non-European populations.Entities:
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Year: 2020 PMID： 32514122 PMCID： PMC7968075 DOI： 10.1038/s41588-020-0640-3
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330