Clinical reviews in allergy & immunology · 2015
Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.
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Dong Ming, Li Jinxin, Tang Ruqi, Zhu Ping, Qiu Fang, Wang Chan, Qiu Jie, Wang Lan, Dai Yaping, Xu Ping, Gao Yueqiu, Han Chongxu, Wang Yongzhong, Wu Jian, Wu Xudong, Zhang Kui, Dai Na, Sun Weihao, Zhou Jianpo, Hu Zhigang, Liu Lei, Jiang Yuzhang, Nie Jinshan, Zhao Yi, Gong Yuhua, Tian Ye, Ji Hualiang, Jiao Zhijun, Jiang Po, Shi Xingjuan, Jawed Rohil, Zhang Yu, Huang Qinghai, Li Enling, Wei Yiran, Xie Wei, Zhao Weifeng, Liu Xiang, Zhu Xiang, Qiu Hong, He Gengsheng, Chen Weichang, Seldin Michael F, Gershwin M Eric, Liu Xiangdong, Ma Xiong
Аннотация
Multiple genome-wide association studies of primary biliary cirrhosis (PBC) in both European and Japanese ancestries have shown significant associations of many genetic loci contributing to the susceptibility to PBC. Major differences in susceptibility loci between these two population groups were observed. In this study, we examined whether the most significant loci observed in either European and/or Japanese cohorts are associated with PBC in a Han Chinese population. In 1070 PBC patients and 1198 controls, we observed highly significant associations at CD80 (rs2293370, P = 2.67 × 10(-8)) and TNFSF15 (rs4979462, P = 3.86 × 10(-8)) and significant associations at 17q12-21 (rs9303277), PDGFB (rs715505), NF-κB1 (rs7665090), IL12RB2 (rs11209050), and STAT4 (rs7574865; all corrected P values <0.01). However, no association was observed for POU2AF1 (rs4938534), IL12A (rs485499 and rs2366408), IL7R (rs6897932), CXCR5 (rs715412), SOCS1 (rs725613), and TNFRSF1A (rs1800693). STAT4 (rs7574865) was strongly associated after additional control samples were analyzed. Our study is the first large-scale genetic analysis in a Han Chinese PBC cohort. These results do not only reflect that Han Chinese PBC patients share common genetic susceptibility genes with both their Japanese and European counterparts but also suggest a distinctly different genetic susceptibility profile.