タニアイ　マキコ   TANIAI Makiko   谷合　麻紀子    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
掲載誌名	正式名：Human molecular genetics 略　 称：Hum Mol Genet ISSNコード：(1460-2083)0964-6906(Linking)
掲載区分	国外
巻・号・頁	26(3),pp.650-659
著者・共著者	◎KAWASHIMA Minae,HITOMI Yuki,AIBA Yoshihiro,NISHIDA Nao,KOJIMA Kaname,KAWAI Yosuke,NAKAMURA Hitomi,TANAKA Atsushi,ZENIYA Mikio,HASHIMOTO Etsuko,OHIRA Hiromasa, YAMAMOTO Kazuhide,ABE Masanori,NAKAO Kazuhiko,YAMAGIWA Satoshi,KANEKO Shuichi,HONDA Masao,UEMURA Takeji,ICHIDA Takafumi,SEIKE Masataka,SAKISAKA Shotaro,HARADA Masaru,YOKOSUKA Osamu,UENO Yoshiyuki,SENJU Michio,KANDA Tatsuo,SHIBATA Hidetaka,HIMOTO Takashi,MURATA Kazumoto,MIYAKE Yasuhiro,ENINUMA Hirotoshi,TANIAI Makiko,JOSHITA Satoru,NIKAMI Toshiki,OTA Hajime,KONNO Hiroshi,KOUNO Hirotaka,NAKAMUTA Makoto,FUKUSHIMA Nobuyoshi,KOHJIMA Motoyuki,KOMATSU Tatsuji,KOMEDA Toshiki,OHARA Yukio,MURO Toyokichi,YAMASHITA Tsutomu,YOSHIZAWA Kaname,NAKAMURA Yoko,SHIMADA Masaaki,HIRASHIMA Noboru,SUJI Kazuhiro,ARIO Keisuke,TAKASEKI Eiichi,NAGANUMA Atsushi, MANO Hiroshi,TAMASHITA Haruhiro,MATSUSHITA Kouki,YAMAUCHI Kazuhiko et al.
発行年月	2017/02
概要	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.
DOI	10.1093/hmg/ddw406
PMID	28062665