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. 2017 Feb 1;26(3):650-659.
doi: 10.1093/hmg/ddw406.

Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population

Minae Kawashima  1 , Yuki Hitomi  1 , Yoshihiro Aiba  2 , Nao Nishida  1   3 , Kaname Kojima  4 , Yosuke Kawai  4 , Hitomi Nakamura  2 , Atsushi Tanaka  5 , Mikio Zeniya  6 , Etsuko Hashimoto  7 , Hiromasa Ohira  8 , Kazuhide Yamamoto  9 , Masanori Abe  10 , Kazuhiko Nakao  11 , Satoshi Yamagiwa  12 , Shuichi Kaneko  13 , Masao Honda  13 , Takeji Umemura  14 , Takafumi Ichida  15 , Masataka Seike  16 , Shotaro Sakisaka  17 , Masaru Harada  18 , Osamu Yokosuka  19 , Yoshiyuki Ueno  20 , Michio Senju  18 , Tatsuo Kanda  19 , Hidetaka Shibata  11 , Takashi Himoto  21 , Kazumoto Murata  3 , Yasuhiro Miyake  9 , Hirotoshi Ebinuma  22 , Makiko Taniai  7 , Satoru Joshita  14 , Toshiki Nikami  23 , Hajime Ota  23 , Hiroshi Kouno  23 , Hirotaka Kouno  23 , Makoto Nakamuta  23 , Nobuyoshi Fukushima  23 , Motoyuki Kohjima  23 , Tatsuji Komatsu  23 , Toshiki Komeda  23 , Yukio Ohara  23 , Toyokichi Muro  23 , Tsutomu Yamashita  23 , Kaname Yoshizawa  23 , Yoko Nakamura  23 , Masaaki Shimada  23 , Noboru Hirashima  23 , Kazuhiro Sugi  23 , Keisuke Ario  23 , Eiichi Takesaki  23 , Atsushi Naganuma  23 , Hiroshi Mano  23 , Haruhiro Yamashita  23 , Kouki Matsushita  23 , Kazuhiko Yamauchi  23 , Fujio Makita  23 , Hideo Nishimura  23 , Kiyoshi Furuta  23 , Naohiro Takahashi  23 , Masahiro Kikuchi  23 , Naohiko Masaki  23 , Tomohiro Tanaka  24 , Sumito Tamura  25 , Akira Mori  26 , Shintaro Yagi  26 , Ken Shirabe  27 , Atsumasa Komori  2   28 , Kiyoshi Migita  2   28 , Masahiro Ito  2   28 , Shinya Nagaoka  2 , Seigo Abiru  2 , Hiroshi Yatsuhashi  2   28 , Michio Yasunami  29 , Shinji Shimoda  30 , Kenichi Harada  31 , Hiroto Egawa  32 , Yoshihiko Maehara  27 , Shinji Uemoto  26 , Norihiro Kokudo  25 , Hajime Takikawa  5 , Hiromi Ishibashi  2   28 , Kazuaki Chayama  33 , Masashi Mizokami  3 , Masao Nagasaki  4 , Katsushi Tokunaga  1 , Minoru Nakamura  2   23   28   34
Affiliations

Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population

Minae Kawashima et al. Hum Mol Genet. .

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.

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