Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
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DOI:
10.1038/ng.145
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发表时间:
2008-06
期刊:
影响因子:
30.8
通讯作者:
Satsangi, Jack
Satsangi, Jack
中科院分区:
生物学1区
文献类型:
--
作者:
Fisher, Sheila A.;Tremelling, Mark;Anderson, Carl A.;Gwilliam, Rhian;Bumpstead, Suzannah;Prescott, Natalie J.;Nimmo, Elaine R.;Massey, Dunecan;Berzuini, Carlo;Johnson, Christopher;Barrett, Jeffrey C.;Cummings, Fraser R.;Drummond, Hazel;Lees, Charlie W.;Onnie, Clive M.;Hanson, Catherine E.;Blaszczyk, Katarzyna;Inouye, Mike;Ewels, Philip;Ravindrarajah, Radhi;Keniry, Andrew;Hunt, Sarah;Carter, Martyn;Watkins, Nick;Ouwehand, Willem;Lewis, Cathryn M.;Cardon, Lon;Lobo, Alan;Forbes, Alastair;Sanderson, Jeremy;Jewell, Derek P.;Mansfield, John C.;Deloukas, Panos;Mathew, Christopher G.;Parkes, Miles;Satsangi, Jack

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我们报告了一项针对溃疡性结肠炎的非同义单核苷酸多态性(SNP)扫描结果,并在ECM1处确定了一个此前未知的易感位点。我们还表明,几个风险位点在溃疡性结肠炎和克罗恩病中是共有的(IL23R、IL12B、HLA、NKX2 - 3和MST1),而自噬基因ATG16L1和IRGM以及NOD2(也称为CARD15)则是克罗恩病所特有的。这些数据首次详细说明了这些常见炎症性肠病之间的遗传关系。
We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn’s disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn’s disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.
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