CCR5-Delta 32 mutation is strongly associated with primary sclerosing cholangitis

Eri, R, Jonsson, JR, Pandeya, N, Purdie, DM, Clouston, AD, Martin, N, Duffy, D, Powell, EE, Fawcett, J, Florin, THJ and Radford-Smith, GL (2004) CCR5-Delta 32 mutation is strongly associated with primary sclerosing cholangitis. Genes And Immunity, 5 6: 444-450. doi:10.1038/sj.gene.6364113

Author Eri, R
Jonsson, JR
Pandeya, N
Purdie, DM
Clouston, AD
Martin, N
Duffy, D
Powell, EE
Fawcett, J
Florin, THJ
Radford-Smith, GL
Title CCR5-Delta 32 mutation is strongly associated with primary sclerosing cholangitis
Journal name Genes And Immunity   Check publisher's open access policy
ISSN 1466-4879
Publication date 2004-01-01
Year available 2004
Sub-type Article (original research)
DOI 10.1038/sj.gene.6364113
Open Access Status DOI
Volume 5
Issue 6
Start page 444
End page 450
Total pages 7
Place of publication UK
Publisher Nature Publishing Group
Language eng
Subject C1
321029 Surgery
730109 Surgical methods and procedures
Abstract CCR5 plays a key role in the distribution of CD45RO+ T cells and contributes to generation of a T helper 1 immune response. CCR5-Delta32 is a 32-bp deletion associated with significant reduction in cell surface expression of the receptor. We investigated the role of CCR5-Delta32 on susceptibility to ulcerative colitis (UC), Crohn's disease ( CD) and primary sclerosing cholangitis (PSC). Genotype and allelic association analyses were performed in 162 patients with UC, 131 with CD, 71 with PSC and 419 matched controls. There was a significant difference in CCR5 genotype (OR 2.27, P = 0.003) between patients with sclerosing cholangitis and controls. Similarly, CCR5-Delta32 allele frequency was significantly higher in sclerosing cholangitis (17.6%) compared to controls (9.9%, OR 2.47, P = 0.007) and inflammatory bowel disease patients without sclerosing cholangitis ( 11.3%, OR 1.9, P = 0.027). There were no significant differences in CCR5 genotype or allele frequency between those with either UC or CD and controls. Genotypes with the CCR5-Delta32 variant were increased in patients with severe liver disease defined by portal hypertension and/or transplantation (45%) compared to those with mild liver disease (21%, OR 3.17, P = 0.03). The CCR5-Delta32 mutation may influence disease susceptibility and severity in patients with PSC.
Keyword Genetics & Heredity
Ccr5-delta 32
Sclerosing Cholangitis
Lymphocyte Trafficking
Chemokine Receptor 5
Hepatobiliary Disease
Delta-32 Polymorphism
Ccr5 Delta-32
Q-Index Code C1
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
2005 Higher Education Research Data Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 41 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 50 times in Scopus Article | Citations
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Created: Wed, 15 Aug 2007, 13:33:14 EST