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

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The UK IBD Genetics Consortium, The Wellcome Trust Case Control Consortium 2·2009·Nature Genetics

Abstract

Ulcerative colitis is a common form of inflammatory bowel disease with a complex etiology. As part of the Wellcome Trust Case Control Consortium 2, we performed a genome-wide association scan for ulcerative colitis in 2,361 cases and 5,417 controls. Loci showing evidence of association at P < 1 × 10−5 were followed up by genotyping in an independent set of 2,321 cases and 4,818 controls. We find genome-wide significant evidence of association at three new loci, each containing at least one biologically relevant candidate gene, on chromosomes 20q13 (HNF4A; P = 3.2 × 10−17), 16q22 (CDH1 and CDH3; P = 2.8 × 10−8) and 7q31 (LAMB1; P = 3.0 × 10−8). Of note, CDH1 has recently been associated with susceptibility to colorectal cancer, an established complication of longstanding ulcerative colitis. The new associations suggest that changes in the integrity of the intestinal epithelial barrier may contribute to the pathogenesis of ulcerative colitis.

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Metadata

Authors
The UK IBD Genetics Consortium, & The Wellcome Trust Case Control Consortium 2
Venue
Nature Genetics
Published
2009-11-15
Volume
41
Issue
12
Pages
1330-1334
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2108963851
Cited by
536
References
4
FWCI
24.24
Type
journal article
Language
en
Open access
bronze
Licence
www.springer.com/tdm (tdm)

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CoChat. (2026). Citation check: Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. https://app.cochat.ai/papers/10.1038/ng.483
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The UK IBD Genetics Consortium, & The Wellcome Trust Case Control Consortium 2. (2009). Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nature Genetics. https://doi.org/10.1038/ng.483

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