CC-type chemokine receptor 5-Delta32 mutation protects against primary sclerosing cholangitis

Inflammatory Bowel Diseases
Liesbet HenckaertsSéverine Vermeire

Abstract

Primary sclerosing cholangitis (PSC) is commonly associated with inflammatory bowel disease (IBD) and characterized by fibrosing inflammatory destruction of biliary ducts. The pathogenesis of PSC remains unknown, but immunological, bacterial, viral, and toxic factors play a role in a genetically susceptible host. We hypothesized that CC-type chemokine receptor 5 (CCR5) would be an interesting candidate gene for susceptibility to PSC from its chromosomal location within the IBD susceptibility locus on 3p21, as well as from a functional perspective. We therefore investigated the role of the functional 32-bp deletion in this gene (CCR5-Delta32) with regard to susceptibility to PSC. A total of 110 patients with PSC, 56 with concomitant IBD (23 with Crohn's disease, 28 with ulcerative colitis, 5 with indeterminate colitis), were collected. All of the subjects were genotyped for CCR5-Delta32 with polymerase chain reaction amplification, followed by detection on ethidium bromide-stained agarose gel. Genotypes and allele frequencies were compared with a cohort of IBD patients without PSC (n = 400) and healthy control subjects (n = 362). The frequency of the CCR5-Delta32 mutation in PSC (6.8%) was significantly lower compared with IBD (...Continue Reading

References

Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
May 1, 1997·Nature Genetics·J J MartinsonJ B Clegg
Oct 13, 1998·Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology : Official Publication of the International Retrovirology Association·G Lucotte, G Mercier
Nov 30, 2000·The American Journal of Gastroenterology·S SaarinenU Broomé
Oct 5, 2001·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K WienckeK M Boberg
Jun 28, 2003·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Ariel E FeldsteinPaul Angulo
Oct 11, 2003·Autoimmunity Reviews·Sue Cullen, Roger Chapman
Oct 22, 2003·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·T M NeriL Okolicsanyi
Jun 25, 2004·Genes and Immunity·R EriG L Radford-Smith
Sep 1, 2004·Cellular Signalling·Martin Oppermann
May 17, 2005·Pharmacology & Therapeutics·Sofia Ribeiro, Richard Horuk
Jun 11, 2005·European Journal of Gastroenterology & Hepatology·Werner Van SteenbergenJohan Fevery

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Citations

May 24, 2007·Gut·Liesbet HenckaertsSeverine Vermeire
May 27, 2009·Seminars in Immunopathology·Jonathan H Aron, Christopher L Bowlus
Nov 1, 2008·Expert Opinion on Drug Discovery·Patrick Dorr, Manos Perros
Nov 26, 2015·Clinics in Liver Disease·Giorgina Mieli-Vergani, Diego Vergani
Feb 29, 2008·Journal of Hepatology·Tobias J WeismüllerMichael P Manns
Nov 29, 2011·Best Practice & Research. Clinical Gastroenterology·Marion J PollheimerMichael Trauner
Apr 7, 2007·Current Opinion in Gastroenterology·James Rl Maggs, Roger W Chapman
Apr 16, 2010·Current Opinion in Gastroenterology·Giorgina Mieli-Vergani, Diego Vergani

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