title: Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.
abstract: 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.
authors.affiliation: Key Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, 210096, Nanjing, Jiangsu, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Dong
authors.forename: Jinxin
authors.initials: J
authors.lastname: Li
authors.forename: Ruqi
authors.initials: R
authors.lastname: Tang
authors.forename: Ping
authors.initials: P
authors.lastname: Zhu
authors.forename: Fang
authors.initials: F
authors.lastname: Qiu
authors.forename: Chan
authors.initials: C
authors.lastname: Wang
authors.forename: Jie
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authors.lastname: Qiu
authors.forename: Lan
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authors.lastname: Wang
authors.forename: Yaping
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authors.lastname: Dai
authors.forename: Ping
authors.initials: P
authors.lastname: Xu
authors.forename: Yueqiu
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authors.lastname: Gao
authors.forename: Chongxu
authors.initials: C
authors.lastname: Han
authors.forename: Yongzhong
authors.initials: Y
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Wu
authors.forename: Xudong
authors.initials: X
authors.lastname: Wu
authors.forename: Kui
authors.initials: K
authors.lastname: Zhang
authors.forename: Na
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authors.lastname: Dai
authors.forename: Weihao
authors.initials: W
authors.lastname: Sun
authors.forename: Jianpo
authors.initials: J
authors.lastname: Zhou
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Hu
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
authors.forename: Yuzhang
authors.initials: Y
authors.lastname: Jiang
authors.forename: Jinshan
authors.initials: J
authors.lastname: Nie
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhao
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Gong
authors.forename: Ye
authors.initials: Y
authors.lastname: Tian
authors.forename: Hualiang
authors.initials: H
authors.lastname: Ji
authors.forename: Zhijun
authors.initials: Z
authors.lastname: Jiao
authors.forename: Po
authors.initials: P
authors.lastname: Jiang
authors.forename: Xingjuan
authors.initials: X
authors.lastname: Shi
authors.forename: Rohil
authors.initials: R
authors.lastname: Jawed
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.forename: Qinghai
authors.initials: Q
authors.lastname: Huang
authors.forename: Enling
authors.initials: E
authors.lastname: Li
authors.forename: Yiran
authors.initials: Y
authors.lastname: Wei
authors.forename: Wei
authors.initials: W
authors.lastname: Xie
authors.forename: Weifeng
authors.initials: W
authors.lastname: Zhao
authors.forename: Xiang
authors.initials: X
authors.lastname: Liu
authors.forename: Xiang
authors.initials: X
authors.lastname: Zhu
authors.forename: Hong
authors.initials: H
authors.lastname: Qiu
authors.forename: Gengsheng
authors.initials: G
authors.lastname: He
authors.forename: Weichang
authors.initials: W
authors.lastname: Chen
authors.forename: Michael F
authors.initials: MF
authors.lastname: Seldin
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Liu
authors.forename: Xiong
authors.initials: X
authors.lastname: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult