Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.
Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.
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与中国汉族人群中原发性胆汁性肝硬化相关的多种遗传变异
DOI：
10.1007/s12016-015-8472-0
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发表时间：
2015-06
影响因子：
9.1
通讯作者：
Ma X
中科院分区：
文献类型：
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作者：
Dong M;Li J;Tang R;Zhu P;Qiu F;Wang C;Qiu J;Wang L;Dai Y;Xu P;Gao Y;Han C;Wang Y;Wu J;Wu X;Zhang K;Dai N;Sun W;Zhou J;Hu Z;Liu L;Jiang Y;Nie J;Zhao Y;Gong Y;Tian Y;Ji H;Jiao Z;Jiang P;Shi X;Jawed R;Zhang Y;Huang Q;Li E;Wei Y;Xie W;Zhao W;Liu X;Zhu X;Qiu H;He G;Chen W;Seldin MF;Gershwin ME;Liu X;Ma X
对欧洲和日本血统的原发性胆汁性肝硬化（PBC）的多个全基因组关联研究表明，许多遗传基因座与PBC的易感性存在显着关联。这两个群体之间的易感位点的主要差异进行了观察。在这项研究中，我们研究了在欧洲和/或日本队列中观察到的最重要的基因座是否与中国汉族人群中的PBC相关。在1070例PBC患者和1198例对照组中，我们观察到CD 80（rs 2293370，P= 2.67 × 10−8）和TNFSF 15（rs 4979462，P= 3.86 × 10−8）和17 q12 -21的显著关联（rs 9303277）、PDGFB（rs715505）、NF-κB1（rs7665090）、IL 12 RB 2（rs 11209050）和STAT 4（rs7574865;所有校正P值均<0.01）。然而，POU 2AF 1（rs 4938534）、IL 12 A（rs485499和rs 2366408）、IL 7 R（rs6897932）、CXCR 5（rs715412）、SOCS 1（rs725613）和TNFRSF 1A（rs 1800693）没有观察到相关性。我们的研究是第一次在中国汉族PBC队列中进行大规模的遗传分析。这些结果不仅反映了中国汉族PBC患者与日本和欧洲患者具有共同的遗传易感基因，而且还表明了明显不同的遗传易感性谱。
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 atCD80(rs2293370,P= 2.67 × 10−8) andTNFSF15(rs4979462,P= 3.86 × 10−8) and significant associations at17q12-21(rs9303277),PDGFB(rs715505),NF-κB1(rs7665090),IL12RB2(rs11209050), andSTAT4(rs7574865; all correctedPvalues <0.01). However, no association was observed forPOU2AF1(rs4938534),IL12A(rs485499 and rs2366408),IL7R(rs6897932),CXCR5(rs715412),SOCS1(rs725613), andTNFRSF1A(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.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
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影响因子：
64.8
作者：
Frazer, Kelly A.;Ballinger, Dennis G.;Cox, David R.;Hinds, David A.;Stuve, Laura L.;Gibbs, Richard A.;Belmont, John W.;Boudreau, Andrew;Hardenbol, Paul;Leal, Suzanne M.;Pasternak, Shiran;Wheeler, David A.;Willis, Thomas D.;Yu, Fuli;Yang, Huanming;Zeng, Changqing;Gao, Yang;Hu, Haoran;Hu, Weitao;Li, Chaohua;Lin, Wei;Liu, Siqi;Pan, Hao;Tang, Xiaoli;Wang, Jian;Wang, Wei;Yu, Jun;Zhang, Bo;Zhang, Qingrun;Zhao, Hongbin;Zhao, Hui;Zhou, Jun;Gabriel, Stacey B.;Barry, Rachel;Blumenstiel, Brendan;Camargo, Amy;Defelice, Matthew;Faggart, Maura;Goyette, Mary;Gupta, Supriya;Moore, Jamie;Nguyen, Huy;Onofrio, Robert C.;Parkin, Melissa;Roy, Jessica;Stahl, Erich;Winchester, Ellen;Ziaugra, Liuda;Altshuler, David;Shen, Yan;Yao, Zhijian;Huang, Wei;Chu, Xun;He, Yungang;Jin, Li;Liu, Yangfan;Shen, Yayun;Sun, Weiwei;Wang, Haifeng;Wang, Yi;Wang, Ying;Xiong, Xiaoyan;Xu, Liang;Waye, Mary M. Y.;Tsui, Stephen K. W.;Wong, J. Tze-Fei;Galver, Luana M.;Fan, Jian-Bing;Gunderson, Kevin;Murray, Sarah S.;Oliphant, Arnold R.;Chee, Mark S.;Montpetit, Alexandre;Chagnon, Fanny;Ferretti, Vincent;Leboeuf, Martin;Olivier, Jean-Franccois;Phillips, Michael S.;Roumy, Stephanie;Sallee, Clementine;Verner, Andrei;Hudson, Thomas J.;Kwok, Pui-Yan;Cai, Dongmei;Koboldt, Daniel C.;Miller, Raymond D.;Pawlikowska, Ludmila;Taillon-Miller, Patricia;Xiao, Ming;Tsui, Lap-Chee;Mak, William;Song, You Qiang;Tam, Paul K. H.;Nakamura, Yusuke;Kawaguchi, Takahisa;Kitamoto, Takuya;Morizono, Takashi;Nagashima, Atsushi;Ohnishi, Yozo;Sekine, Akihiro;Tanaka, Toshihiro;Tsunoda, Tatsuhiko;Deloukas, Panos;Bird, Christine P.;Delgado, Marcos;Dermitzakis, Emmanouil T.;Gwilliam, Rhian;Hunt, Sarah;Morrison, Jonathan;Powell, Don;Stranger, Barbara E.;Whittaker, Pamela;Bentley, David R.;Daly, Mark J.;de Bakker, Paul I. W.;Barrett, Jeff;Chretien, Yves R.;Maller, Julian;McCarroll, Steve;Patterson, Nick;Pe'er, Itsik;Price, Alkes;Purcell, Shaun;Richter, Daniel J.;Sabeti, Pardis;Saxena, Richa;Schaffner, Stephen F.;Sham, Pak C.;Varilly, Patrick;Altshuler, David;Stein, Lincoln D.;Krishnan, Lalitha;Smith, Albert Vernon;Tello-Ruiz, Marcela K.;Thorisson, Gudmundur A.;Chakravarti, Aravinda;Chen, Peter E.;Cutler, David J.;Kashuk, Carl S.;Lin, Shin;Abecasis, Goncalo R.;Guan, Weihua;Li, Yun;Munro, Heather M.;Qin, Zhaohui Steve;Thomas, Daryl J.;McVean, Gilean;Auton, Adam;Bottolo, Leonardo;Cardin, Niall;Eyheramendy, Susana;Freeman, Colin;Marchini, Jonathan;Myers, Simon;Spencer, Chris;Stephens, Matthew;Donnelly, Peter;Cardon, Lon R.;Clarke, Geraldine;Evans, David M.;Morris, Andrew P.;Weir, Bruce S.;Tsunoda, Tatsuhiko;Johnson, Todd A.;Mullikin, James C.;Sherry, Stephen T.;Feolo, Michael;Skol, Andrew
通讯作者：
Skol, Andrew
中国汉族人群的全基因组关联研究确定了系统性红斑狼疮的九个新易感位点
影响因子：
30.8
作者：
Han, Jian-Wen;Zheng, Hou-Feng;Zhang, Xue-Jun
通讯作者：
Zhang, Xue-Jun
全基因组的荟萃分析鉴定了与原发性胆道肝硬化相关的三个基因座。
影响因子：
30.8
作者：
通讯作者：
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影响因子：
30.8
作者：
通讯作者：
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