Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
15215889
TITLE
CCR5-Delta32 mutation is strongly associated with primary sclerosing cholangitis.
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.
DATE PUBLISHED
2004 Sep
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2004/06/25 05:00
medline 2005/02/11 09:00
entrez 2004/06/25 05:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Eri R Eri R R Brisbane IBD Research Group, Clinical Research Centre, Royal Brisbane Hospital Research Foundation, Brisbane, Australia.
Jonsson JR Jonsson J R JR
Pandeya N Pandeya N N
Purdie DM Purdie D M DM
Clouston AD Clouston A D AD
Martin N Martin N N
Duffy D Duffy D D
Powell EE Powell E E EE
Fawcett J Fawcett J J
Florin TH Florin T H J TH
Radford-Smith GL Radford-Smith G L GL
INVESTIGATORS
JOURNAL
VOLUME: 5
ISSUE: 6
TITLE: Genes and immunity
ISOABBREVIATION: Genes Immun.
YEAR: 2004
MONTH: Sep
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1466-4879
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Genes Immun
COUNTRY: England
ISSNLINKING: 1466-4879
NLMUNIQUEID: 100953417
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Case-Control Studies
Cholangitis, Sclerosing genetics
Colitis, Ulcerative genetics
Crohn Disease genetics
Female genetics
Gene Deletion genetics
Gene Frequency genetics
Genetic Predisposition to Disease genetics
Genotype genetics
Humans genetics
Hypertension, Portal genetics
Male genetics
Middle Aged genetics
Mutation genetics
Receptors, CCR5 genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, CCR5
OTHER ID's