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DOI 10.1093/hmg/ddw406

Медицинская библиотека · Human molecular genetics · 2017

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

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, Umemura 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, Ebinuma Hirotoshi, Taniai Makiko, Joshita Satoru, Nikami Toshiki, Ota Hajime, Kouno 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, Sugi Kazuhiro, Ario Keisuke, Takesaki Eiichi, Naganuma Atsushi, Mano Hiroshi, Yamashita Haruhiro, Matsushita Kouki, Yamauchi Kazuhiko, Makita Fujio, Nishimura Hideo, Furuta Kiyoshi, Takahashi Naohiro, Kikuchi Masahiro, Masaki Naohiko, Tanaka Tomohiro, Tamura Sumito, Mori Akira, Yagi Shintaro, Shirabe Ken, Komori Atsumasa, Migita Kiyoshi, Ito Masahiro, Nagaoka Shinya, Abiru Seigo, Yatsuhashi Hiroshi, Yasunami Michio, Shimoda Shinji, Harada Kenichi, Egawa Hiroto, Maehara Yoshihiko, Uemoto Shinji, Kokudo Norihiro, Takikawa Hajime, Ishibashi Hiromi, Chayama Kazuaki, Mizokami Masashi, Nagasaki Masao, Tokunaga Katsushi, Nakamura Minoru

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Аннотация

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.

Для цитирования: 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, Umemura 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, Ebinuma Hirotoshi, Taniai Makiko, Joshita Satoru, Nikami Toshiki, Ota Hajime, Kouno 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, Sugi Kazuhiro, Ario Keisuke, Takesaki Eiichi, Naganuma Atsushi, Mano Hiroshi, Yamashita Haruhiro, Matsushita Kouki, Yamauchi Kazuhiko, Makita Fujio, Nishimura Hideo, Furuta Kiyoshi, Takahashi Naohiro, Kikuchi Masahiro, Masaki Naohiko, Tanaka Tomohiro, Tamura Sumito, Mori Akira, Yagi Shintaro, Shirabe Ken, Komori Atsumasa, Migita Kiyoshi, Ito Masahiro, Nagaoka Shinya, Abiru Seigo, Yatsuhashi Hiroshi, Yasunami Michio, Shimoda Shinji, Harada Kenichi, Egawa Hiroto, Maehara Yoshihiko, Uemoto Shinji, Kokudo Norihiro, Takikawa Hajime, Ishibashi Hiromi, Chayama Kazuaki, Mizokami Masashi, Nagasaki Masao, Tokunaga Katsushi, Nakamura Minoru. Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.. Human molecular genetics. 2017. DOI: 10.1093/hmg/ddw406.

Предметные рубрики MeSH

Asian PeopleFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansJapanLiver Cirrhosis, BiliaryMalePolymorphism, Single NucleotideProtein Kinase C beta
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