| Literature DB >> 28062665 |
Minae Kawashima1, Yuki Hitomi1, Yoshihiro Aiba2, Nao Nishida1,3, Kaname Kojima4, Yosuke Kawai4, Hitomi Nakamura2, Atsushi Tanaka5, Mikio Zeniya6, Etsuko Hashimoto7, Hiromasa Ohira8, Kazuhide Yamamoto9, Masanori Abe10, Kazuhiko Nakao11, Satoshi Yamagiwa12, Shuichi Kaneko13, Masao Honda13, Takeji Umemura14, Takafumi Ichida15, Masataka Seike16, Shotaro Sakisaka17, Masaru Harada18, Osamu Yokosuka19, Yoshiyuki Ueno20, Michio Senju18, Tatsuo Kanda19, Hidetaka Shibata11, Takashi Himoto21, Kazumoto Murata3, Yasuhiro Miyake9, Hirotoshi Ebinuma22, Makiko Taniai7, Satoru Joshita14, Toshiki Nikami23, Hajime Ota23, Hiroshi Kouno23, Hirotaka Kouno23, Makoto Nakamuta23, Nobuyoshi Fukushima23, Motoyuki Kohjima23, Tatsuji Komatsu23, Toshiki Komeda23, Yukio Ohara23, Toyokichi Muro23, Tsutomu Yamashita23, Kaname Yoshizawa23, Yoko Nakamura23, Masaaki Shimada23, Noboru Hirashima23, Kazuhiro Sugi23, Keisuke Ario23, Eiichi Takesaki23, Atsushi Naganuma23, Hiroshi Mano23, Haruhiro Yamashita23, Kouki Matsushita23, Kazuhiko Yamauchi23, Fujio Makita23, Hideo Nishimura23, Kiyoshi Furuta23, Naohiro Takahashi23, Masahiro Kikuchi23, Naohiko Masaki23, Tomohiro Tanaka24, Sumito Tamura25, Akira Mori26, Shintaro Yagi26, Ken Shirabe27, Atsumasa Komori2,28, Kiyoshi Migita2,28, Masahiro Ito2,28, Shinya Nagaoka2, Seigo Abiru2, Hiroshi Yatsuhashi2,28, Michio Yasunami29, Shinji Shimoda30, Kenichi Harada31, Hiroto Egawa32, Yoshihiko Maehara27, Shinji Uemoto26, Norihiro Kokudo25, Hajime Takikawa5, Hiromi Ishibashi2,28, Kazuaki Chayama33, Masashi Mizokami3, Masao Nagasaki4, Katsushi Tokunaga1, Minoru Nakamura2,23,28,34.
Abstract
A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. In this study, we performed GWAS in additional 1,923 Japanese individuals (894 PBC cases and 1,029 healthy controls), and combined the results with the previous data. This GWAS, together with a subsequent replication study in an independent set of 7,024 Japanese individuals (512 PBC cases and 6,512 healthy controls), identified PRKCB (rs7404928) as a novel susceptibility locus for PBC (odds ratio [OR] = 1.26, P = 4.13 × 10-9). Furthermore, a primary functional variant of PRKCB (rs35015313) was identified by genotype imputation using a phased panel of 1,070 Japanese individuals from a prospective, general population cohort study and subsequent in vitro functional analyses. These results may lead to improved understanding of the disease pathways involved in PBC, forming a basis for prevention of PBC and development of novel therapeutics.Entities:
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Year: 2017 PMID： 28062665 DOI： 10.1093/hmg/ddw406
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150