Multiple Genetic Variants Associated with Primary Biliary Cirrhosis in a Han Chinese Population

被引：41

作者：

Dong, M. ^{[1
]}

Li, Jinxin ^{[1
]}

Tang, Ruqi ^{[2
]}

Zhu, Ping ^{[1
]}

Qiu, Fang ^{[1
]}

Wang, Chan ^{[1
]}

Qiu, Jie ^{[3
]}

Wang, Lan ^{[4
]}

Dai, Yaping ^{[5
]}

Xu, Ping ^{[6
]}

Gao, Yueqiu ^{[7
]}

Han, Chongxu ^{[8
]}

Wang, Yongzhong ^{[9
]}

Wu, Jian ^{[10
]}

Wu, Xudong ^{[11
]}

Zhang, Kui ^{[12
]}

Dai, Na ^{[13
]}

Sun, Weihao ^{[14
]}

Zhou, Jianpo ^{[15
]}

Hu, Zhigang ^{[16
]}

Liu, Lei ^{[17
]}

Jiang, Yuzhang ^{[18
]}

Nie, Jinshan ^{[19
]}

Zhao, Yi ^{[20
]}

Gong, Yuhua ^{[21
]}

Tian, Ye ^{[22
]}

Ji, Hualiang ^{[23
]}

Jiao, Zhijun ^{[24
]}

Jiang, Po ^{[25
]}

Shi, Xingjuan ^{[1
]}

Jawed, Rohil ^{[1
]}

Zhang, Yu ^{[1
]}

Huang, Qinghai ^{[1
]}

Li, Enling ^{[2
]}

Wei, Yiran ^{[2
]}

Xie, Wei ^{[1
]}

Zhao, Weifeng ^{[10
]}

Liu, Xiang ^{[26
]}

Zhu, Xiang ^{[6
]}

Qiu, Hong ^{[4
]}

He, Gengsheng ^{[27
]}

Chen, Weichang ^{[10
]}

Seldin, Michael F. ^{[28
]}

Gershwin, M. Eric ^{[29
]}

Liu, Xiangdong ^{[1
]}

Ma, Xiong ^{[2
]}

机构：

[1] Southeast Univ, Key Lab Dev Genes & Human Dis, Inst Life Sci, Nanjing 210096, Jiangsu, Peoples R China

[2] Shanghai Jiao Tong Univ, State Key Lab Oncogenes & Related Genes, Div Gastroenterol & Hepatol, Renji Hosp,Sch Med,Shanghai Canc Inst,Shanghai In, Shanghai 200001, Peoples R China

[3] Southeast Univ, Hosp Nanjing 2, Nanjing 210003, Jiangsu, Peoples R China

[4] 81th Hosp PLA, Deparment Clin Lab, Nanjing 210002, Jiangsu, Peoples R China

[5] Hosp Wuxi 5, Wuxi 214005, Jiangsu, Peoples R China

[6] Soochow Univ, Peoples Hosp 5, Suzhou 215007, Jiangsu, Peoples R China

[7] Shanghai Univ Tradit Chinese Med, Shuguang Hosp, Shanghai 200021, Peoples R China

[8] Yangzhou Univ, Subei Peoples Hosp, Clin Med Coll, Med Lab, Yangzhou 225001, Jiangsu, Peoples R China

[9] Third Peoples Hosp Changzhou, Med Lab, Changzhou 213000, Jiangsu, Peoples R China

[10] Soochow Univ, Affiliated Hosp 1, Suzhou 215006, Jiangsu, Peoples R China

[11] Yancheng First Peoples Hosp, Dept Gastroenterol, Yancheng 224005, Jiangsu, Peoples R China

[12] Nanjing Univ, Sch Med, Affiliated Drum Tower Hosp, Nanjing 210008, Jiangsu, Peoples R China

[13] Jiangsu Univ, Affiliated Kunshan Hosp, Dept Gastroenterol, Kunshan 215300, Jiangsu, Peoples R China

[14] Nanjing Med Univ, Affiliated Hosp 1, Dept Geriatr Gastroenterol, Nanjing 210029, Jiangsu, Peoples R China

[15] Southeast Univ, Jiangyin Peoples Hosp, Med Lab, Jiangyin 214400, Jiangsu, Peoples R China

[16] Nanjing Med Univ, Affiliated Wuxi Peoples Hosp, Wuxi 214023, Jiangsu, Peoples R China

[17] Yixing Peoples Hosp, Dept Gastroenterol, Yixing 214200, Jiangsu, Peoples R China

[18] Nanjing Med Univ, Huaian Peoples Hosp 1, Huaian 223300, Jiangsu, Peoples R China

[19] Soochow Univ, Taicang Peoples Hosp 1, Dept Gastroenterol, Taicang 215400, Jiangsu, Peoples R China

[20] Changshu Second Peoples Hosp, Dept Gastroenterol, Changshu 215500, Jiangsu, Peoples R China

[21] Jiangsu Univ, Peoples Hosp 3, Zhenjiang 212005, Jiangsu, Peoples R China

[22] Soochow Univ, Dept Radiotherapy & Oncol, Affiliated Hosp 2, Suzhou 215004, Jiangsu, Peoples R China

[23] Nantong Univ, Haian Peoples Hosp, Sch Med, Haian 226600, Jiangsu, Peoples R China

[24] Jiangsu Univ, Affiliated Hosp, Zhenjiang 212005, Jiangsu, Peoples R China

[25] Jingjiang Peoples Hosp 2, Jingjiang 214500, Jiangsu, Peoples R China

[26] Hainan Med Univ, Hainan 571199, Peoples R China

[27] Fudan Univ, Sch Publ Hlth, Dept Nutr & Food Hyg, Shanghai 200032, Peoples R China

[28] Univ Calif Davis, Dept Biol Chem, Davis, CA 95616 USA

[29] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Sch Med, Genome & Biomed Sci Facil, Davis, CA 95616 USA

来源：

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY | 2015年 / 48卷 / 2-3期

基金：

中国国家自然科学基金;

关键词：

Primary biliary cirrhosis; Genetic susceptibility; Han Chinese; Single nucleotide polymorphism; Genotyping; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; CHOLANGITIS; IDENTIFICATION; EPIDEMIOLOGY; SPECIFICITY; CELLS;

D O I：

10.1007/s12016-015-8472-0

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

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 x 10(-8)) and TNFSF15 (rs4979462, P = 3.86 x 10(-8)) and significant associations at 17q12-21 (rs9303277), PDGFB (rs715505), NF-kappa B1 (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.

引用

页码：316 / 321

页数：6

共 50 条

[1] Multiple Genetic Variants Associated with Primary Biliary Cirrhosis in a Han Chinese Population
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Jinxin Li
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Yaping Dai
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