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Table of Contents
Vol. 84, No. 1, 2011
Issue release date: July 2011
Section title: Original Paper
Digestion 2011;84:29–35
(DOI:10.1159/000321619)

Analysis of IL2/IL21 Gene Variants in Cholestatic Liver Diseases Reveals an Association with Primary Sclerosing Cholangitis

Stallhofer J.a · Denk G.U.a · Glas J.a, c · Laubender R.P.b · Göke B.a · Rust C.a · Brand S.a · Pusl T.a, d
aDepartment of Medicine II and bInstitute of Medical Informatics, Biometry and Epidemiology, University Hospital Munich-Grosshadern, cDepartment of Preventive Dentistry and Periodontology, Ludwig Maximilian University, Munich, and dFirst Medical Clinic, Klinikum Augsburg, Augsburg, Germany

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: July 06, 2010
Accepted: September 30, 2010
Published online: February 08, 2011
Issue release date: July 2011

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 3

ISSN: 0012-2823 (Print)
eISSN: 1421-9867 (Online)

For additional information: http://www.karger.com/DIG

Abstract

Background/Aims: The chromosome 4q27 region harboring IL2 and IL21 is an established risk locus for ulcerative colitis (UC) and various other autoimmune diseases. Considering the strong coincidence of primary sclerosing cholangitis (PSC) with UC and the increased frequency of other autoimmune disorders in patients with primary biliary cirrhosis (PBC), we investigated whether genetic variation in the IL2/IL21 region may also modulate the susceptibility to these two rare cholestatic liver diseases. Methods: Four strongly UC-associated single nucleotide polymorphisms (SNPs) within the KIAA1109/TENR/IL2/IL21 linkage disequilibrium block were genotyped in 124 PBC and 41 PSC patients. Control allele frequencies from 1,487 healthy, unrelated Caucasians were available from a previous UC association study. Results: The minor alleles of all four markers were associated with a decreased susceptibility to PSC (rs13151961: p = 0.013, odds ratio (OR) 0.34; rs13119723: p = 0.023, OR 0.40; rs6822844: p = 0.031, OR 0.41; rs6840978: p = 0.043, OR 0.46). Moreover, a haplotype consisting of the four minor alleles also had a protective effect on PSC susceptibility (p = 0.0084, OR 0.28). A haplotype of the four major alleles was independently associated with PSC when excluding the patients with concomitant inflammatory bowel disease (p = 0.033, OR 4.18). Conclusion: The IL2/IL21 region may be one of the highly suggestive but so far rarely identified shared susceptibility loci for PSC and UC.

© 2011 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: July 06, 2010
Accepted: September 30, 2010
Published online: February 08, 2011
Issue release date: July 2011

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 3

ISSN: 0012-2823 (Print)
eISSN: 1421-9867 (Online)

For additional information: http://www.karger.com/DIG


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