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TANIAI Makiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Associate Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Non peer reviewed |
| Title | Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. |
| Journal | Formal name：Human molecular genetics Abbreviation：Hum Mol Genet ISSN code：(1460-2083)0964-6906(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 26(3),pp.650-659 |
| Author and coauthor | ◎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. |
| Publication date | 2017/02 |
| Summary | 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 |