Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Nat Genet. 2010 Apr;42(4):332-7. doi: 10.1038/ng.549. Epub 2010 Mar 14.
Ulcerative colitis is a chronic, relapsing inflammatory condition of the gastrointestinal tract with a complex genetic and environmental etiology. In an effort to identify genetic variation underlying ulcerative colitis risk, we present two distinct genome-wide association studies of ulcerative colitis and their joint analysis with a previously published scan, comprising, in aggregate, 2,693 individuals with ulcerative colitis and 6,791 control subjects. Fifty-nine SNPs from 14 independent loci attained an association significance of P < 10(-5). Seven of these loci exceeded genome-wide significance (P < 5 x 10(-8)). After testing an independent cohort of 2,009 cases of ulcerative colitis and 1,580 controls, we identified 13 loci that were significantly associated with ulcerative colitis (P < 5 x 10(-8)), including the immunoglobulin receptor gene FCGR2A, 5p15, 2p16 and ORMDL3 (orosomucoid1-like 3). We confirmed association with 14 previously identified ulcerative colitis susceptibility loci, and an analysis of acknowledged Crohn's disease loci showed that roughly half of the known Crohn's disease associations are shared with ulcerative colitis. These data implicate approximately 30 loci in ulcerative colitis, thereby providing insight into disease pathogenesis.
溃疡性结肠炎是一种胃肠道慢性复发性炎症疾病,具有复杂的遗传和环境病因。为了确定溃疡性结肠炎风险的遗传变异,我们进行了两项独立的溃疡性结肠炎全基因组关联研究,并对之前发表的扫描结果进行了联合分析,总共有 2693 名溃疡性结肠炎患者和 6791 名对照。来自 14 个独立基因座的 59 个 SNP 达到了 P < 10(-5)的关联显著性。其中 7 个基因座超过了全基因组显著性水平(P < 5 x 10(-8))。在对 2009 例溃疡性结肠炎病例和 1580 例对照进行独立队列测试后,我们确定了 13 个与溃疡性结肠炎显著相关的基因座(P < 5 x 10(-8)),包括免疫球蛋白受体基因 FCGR2A、5p15、2p16 和 ORMDL3(orosomucoid1-like 3)。我们确认了与 14 个先前确定的溃疡性结肠炎易感性基因座的关联,并且对公认的克罗恩病基因座的分析表明,大约一半已知的克罗恩病关联与溃疡性结肠炎共享。这些数据提示溃疡性结肠炎约有 30 个基因座受累,从而深入了解了疾病的发病机制。
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