Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
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作者：
除了HLA基因座外，在最近的全基因组关联研究（GWAS）中还发现了原发性胆汁性肝硬化（PBC）的六个遗传危险因素。为了确定其他基因座，我们使用来自英国PBC联盟的1，840例病例和作为Wellcome Trust Case Control Consortium 3（WTCCC3）一部分的5，163例英国人群对照进行了GWAS。28个位点在另外620例PBC病例和2，514例人群对照的英国队列中进行了随访。我们确定了12个新的风险位点（P<5×10−8），并复制了所有先前相关的位点。通过对我们的研究数据和先前发表的GWAS结果进行荟萃分析，确定了另外三个新的基因座。新的候选基因包括STAT4、DENND1B、CD80、IL7R、CXCR5、TNFRSF1A、CLEC16A和NFKB 1。这项研究大大扩展了我们对PBC遗传结构的认识。
In addition to the HLA-locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840 cases from the UK PBC Consortium and 5,163 UK population controls as part of the Wellcome Trust Case Control Consortium 3 (WTCCC3). Twenty-eight loci were followed up in an additional UK cohort of 620 PBC cases and 2,514 population controls. We identified 12 novel risk loci (P<5×10−8) and replicated all previously associated loci. Three further novel loci were identified by meta-analysis of data from our study and previously published GWAS results. New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A, and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC.
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影响因子：
25.7
作者：
Jones, DEJ;Watt, FE;James, OFW
通讯作者：
James, OFW
影响因子：
13.5
作者：
Donaldson, Peter T.;Baragiotta, Anna;Bassendine, Margaret F.
通讯作者：
Bassendine, Margaret F.
影响因子：
30.8
作者：
Barrett, Jeffrey C.;Lee, James C.;Lees, Charles W.;Prescott, Natalie J.;Anderson, Carl A.;Phillips, Anne;Wesley, Emma;Parnell, Kirstie;Zhang, Hu;Drummond, Hazel;Nimmo, Elaine R.;Massey, Dunecan;Blaszczyk, Kasia;Elliott, Timothy;Cotterill, Lynn;Dallal, Helen;Lobo, Alan J.;Mowat, Craig;Sanderson, Jeremy D.;Jewell, Derek P.;Newman, William G.;Edwards, Cathryn;Ahmad, Tariq;Mansfield, John C.;Satsangi, Jack;Parkes, Miles;Mathew, Christopher G.;Donnelly, Peter;Peltonen, Leena;Blackwell, Jenefer M.;Bramon, Elvira;Brown, Matthew A.;Casas, Juan P.;Corvin, Aiden;Craddock, Nicholas;Deloukas, Panos;Duncanson, Audrey;Jankowski, Janusz;Markus, Hugh S.;McCarthy, Mark I.;Palmer, Colin N. A.;Plomin, Robert;Rautanen, Anna;Sawcer, Stephen J.;Samani, Nilesh;Trembath, Richard C.;Viswanathan, Ananth C.;Wood, Nicholas;Spencer, Chris C. A.;Bellenguez, Celine;Davison, Daniel;Freeman, Colin;Strange, Amy;Langford, Cordelia;Hunt, Sarah E.;Edkins, Sarah;Gwilliam, Rhian;Blackburn, Hannah;Bumpstead, Suzannah J.;Dronov, Serge;Gillman, Matthew;Gray, Emma;Hammond, Naomi;Jayakumar, Alagurevathi;McCann, Owen T.;Liddle, Jennifer;Perez, Marc L.;Potter, Simon C.;Ravindrarajah, Radhi;Ricketts, Michelle;Waller, Matthew;Weston, Paul;Widaa, Sara;Whittaker, Pamela;Attwood, Antony P.;Stephens, Jonathan;Sambrook, Jennifer;Ouwehand, Willem H.;McArdle, Wendy L.;Ring, Susan M.;Strachan, David P.
通讯作者：
Strachan, David P.
DOI：
10.1093/bioinformatics/btq280
发表时间：
2010-07-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
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作者：
Morris JA;Randall JC;Maller JB;Barrett JC
通讯作者：
Barrett JC
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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