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全基因组关联分析确定多个溃疡性结肠炎易感性位点。

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

机构信息

Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

出版信息

Nat Genet. 2010 Apr;42(4):332-7. doi: 10.1038/ng.549. Epub 2010 Mar 14.


DOI:10.1038/ng.549
PMID:20228799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3087600/
Abstract

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.

摘要

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。

相似文献

[1]
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

Nat Genet. 2010-3-14

[2]
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.

Nat Genet. 2009-11-15

[3]
Association of FCGR2A, JAK2 or HNF4A variants with ulcerative colitis in Koreans.

Dig Liver Dis. 2011-8-9

[4]
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Nat Genet. 2011-2-6

[5]
Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

Gastroenterology. 2017-1

[6]
Meta-analysis of published studies identified eight additional common susceptibility loci for Crohn's disease and ulcerative colitis.

Inflamm Bowel Dis. 2011-2-23

[7]
Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.

Inflamm Bowel Dis. 2013-4

[8]
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

Lancet. 2016-1-9

[9]
X Chromosome-wide Association Study Identifies a Susceptibility Locus for Inflammatory Bowel Disease in Koreans.

J Crohns Colitis. 2017-7-1

[10]
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.

Hum Mol Genet. 2014-12-20

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[8]
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[10]
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本文引用的文献

[1]
Common variants at five new loci associated with early-onset inflammatory bowel disease.

Nat Genet. 2009-11-15

[2]
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.

Nat Genet. 2009-11-15

[3]
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

Nat Genet. 2009-11-15

[4]
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.

Am J Hum Genet. 2009-9

[5]
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

N Engl J Med. 2009-6-11

[6]
Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

Gut. 2009-8

[7]
Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease.

Inflamm Bowel Dis. 2009-6

[8]
Biphasic, bidirectional regulation of NF-kappaB by endoplasmic reticulum stress.

Antioxid Redox Signal. 2009-9

[9]
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

Nat Genet. 2008-9

[10]
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Nat Genet. 2009-2

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