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Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population Minoru Nakamura, Nao Nishida, Minae Kawashima, Yoshihiro Aiba, Atsushi Tanaka, Michio Yasunami, Hitomi Nakamura, Atsumasai Komori, Makoto Nakamuta, Mikio Zeniya, Etsuko Hashimoto, Hiromasa Ohira, Kazuhide Yamamoto, Morikazu Onji, Shuichi Kaneko, Masao Honda, Satoshi Yamagiwa, Kazuhiko Nakao, Takafumi Ichida, Hajime Takikawa, Masataka Seike, Takeji Umemura, Yoshiyuki Ueno, Shotaro Sakisaka, Kentaro Kikuchi, Hirotoshi Ebinuma, Noriyo Yamashiki, Sumito Tamura, Yasuhiko Sugawara, Akira Mori, Shintaro Yagi, Ken Shirabe, Akinobu Taketomi, Kuniaki Arai, Kyoko Monoe, Tatsuki Ichikawa, Makiko Taniai, Yasuhiro Miyake, Teru Kumagi, Masanori Abe, Kaname Yoshizawa, Satoru Joshita, Shinji Shimoda, Koichi Honda, Hiroki Takahashi, Katsuji Hirano, Yasuaki Takeyama, Kenichi Harada, Kiyoshi Migita, Masahiro Ito, Hiroshi Yatsuhashi, Nobuyoshi Fukushima, Hajime Ota, Tatsuji Komatsu, Takeo Saoshiro, Jinya Ishida, Hirotsugu Kouno, Hirotaka Kouno, Michiyasu Yagura, Masakazu Kobayashi, Toyokichi Muro, Naohiko Masaki, Keiichi Hirata, Yukio Watanabe, Yoko Nakamura, Masaaki Shimada, Noboru Hirashima, Toshiki Komeda, Kazuhiro Sugi, Michiaki Koga, Keisuke Ario, Eiichi Takesaki, Yoshihiko Maehara, Shinji Uemoto, Norihiro Kokudo, Hirohito Tsubouchi, Masashi Mizokami, Yasuni Nakanuma, Katsushi Tokunaga, Hiromi Ishibashi The American Journal of Human Genetics Volume 91, Issue 4, Pages (October 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions
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Figure 1 GWAS Results From 963 samples (487 Japanese PBC cases and 476 Japanese healthy controls), p values were calculated with a chi-square test for allele frequencies among 420,928 SNPs. The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions
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Figure 2 LD Structure, p Values, and OR Plots in the Association Analysis LD maps (A) around TNFSF15 (chr9: nucleotide position: – ; build 36.3) and (B) around POU2AF1 (chr11: nucleotide position: – ; build 36.3). The middle panels show estimates of pairwise r2 for (A) 28 SNPs and (B) 33 SNPs in the high-density mapping with a total of 2,365 samples used. The bottom panels show p values and OR-based chi-square tests for the allelic model for the left panels of 963 samples in the GWAS (●), the right panels of 1,402 samples in the replication study (▴), and the combined analysis (⋄). The American Journal of Human Genetics , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions
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