Literature DB >> 19455118

Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease.

Jürgen Glas1, Johannes Stallhofer, Stephan Ripke, Martin Wetzke, Simone Pfennig, Wolfram Klein, Jörg T Epplen, Thomas Griga, Uwe Schiemann, Martin Lacher, Sibylle Koletzko, Matthias Folwaczny, Peter Lohse, Burkhard Göke, Thomas Ochsenkühn, Bertram Müller-Myhsok, Stephan Brand.   

Abstract

OBJECTIVES: Recently, a genome-wide association study showed that single-nucleotide polymorphisms (SNPs) in the chromosome 4q27 region containing IL2 and IL21 are associated with celiac disease. Given the increased prevalence of inflammatory bowel disease (IBD) among celiac disease patients, we investigated the possible involvement of these SNPs in IBD.
METHODS: Five SNPs strongly associated with celiac disease within the KIAA1109/TENR/IL2/IL21 linkage disequilibrium block on chromosome 4q27 and one coding SNP within the IL21 gene were analyzed in a large German IBD cohort. The study population comprised a total of 2,948 Caucasian individuals, including 1,461 IBD patients (ulcerative colitis (UC): n=514, Crohn's disease (CD): n=947) and 1,487 healthy unrelated controls.
RESULTS: Three of the five celiac disease risk markers had a protective effect on UC susceptibility, and this effect remained significant after correcting for multiple testing: rs6840978: P=0.0082, P(corr)=0.049, odds ratio (OR) 0.77, 95% confidence interval (CI) 0.63-0.93; rs6822844: P=0.0028, P(corr)=0.017, OR 0.73, 95% CI 0.59-0.90; rs13119723: P=0.0058, P(corr)=0.035, OR 0.75, 95% CI 0.61-0.92. A haplotype consisting of the six SNPs tested was markedly associated with UC susceptibility (P=0.0025, P(corr)=0.015, OR 0.72, 95% CI 0.58-0.89). Moreover, in UC, epistasis was observed between the IL23R SNP rs1004819 and three SNPs in the KIAA1109/TENR/IL2/IL21 block (rs13151961, rs13119723, and rs6822844).
CONCLUSIONS: Similar to other autoimmune diseases such as celiac disease, rheumatoid arthritis, type 1 diabetes, Graves' disease, and psoriatic arthritis, genetic variation in the chromosome 4q27 region predisposes to UC, suggesting a common genetic background for these diseases.

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Year:  2009        PMID: 19455118     DOI: 10.1038/ajg.2009.163

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN: 0002-9270            Impact factor:   10.864


  36 in total

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2.  Hedgehog is an anti-inflammatory epithelial signal for the intestinal lamina propria.

Authors:  William J Zacharias; Xing Li; Blair B Madison; Katherine Kretovich; John Y Kao; Juanita L Merchant; Deborah L Gumucio
Journal:  Gastroenterology       Date:  2010-03-03       Impact factor: 22.682

3.  The 4q27 locus and prostate cancer risk.

Authors:  Elizabeth A Tindall; Hoa N Hoang; Melissa C Southey; Dallas R English; John L Hopper; Graham G Giles; Gianluca Severi; Vanessa M Hayes
Journal:  BMC Cancer       Date:  2010-02-25       Impact factor: 4.430

4.  Double Threat: Interplay of Celiac Disease with Inflammatory Bowel Disease.

Authors:  John Gubatan; George Triadafilopoulos; Nielsen Q Fernandez-Becker
Journal:  Dig Dis Sci       Date:  2020-04       Impact factor: 3.199

5.  Intestinal neuroendocrine cells and goblet cells are mediators of IL-17A-amplified epithelial IL-17C production in human inflammatory bowel disease.

Authors:  M Friedrich; J Diegelmann; J Schauber; C J Auernhammer; S Brand
Journal:  Mucosal Immunol       Date:  2014-12-10       Impact factor: 7.313

6.  Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.

Authors:  Jade E Hollis-Moffatt; Michael Chen-Xu; Ruth Topless; Nicola Dalbeth; Peter J Gow; Andrew A Harrison; John Highton; Peter B B Jones; Michael Nissen; Malcolm D Smith; Andre van Rij; Gregory T Jones; Lisa K Stamp; Tony R Merriman
Journal:  Arthritis Res Ther       Date:  2010-06-16       Impact factor: 5.156

7.  Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.

Authors:  Jürgen Glas; Julia Seiderer; Melinda Nagy; Christoph Fries; Florian Beigel; Maria Weidinger; Simone Pfennig; Wolfram Klein; Jörg T Epplen; Peter Lohse; Matthias Folwaczny; Burkhard Göke; Thomas Ochsenkühn; Julia Diegelmann; Bertram Müller-Myhsok; Darina Roeske; Stephan Brand
Journal:  PLoS One       Date:  2010-04-29       Impact factor: 3.240

8.  The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease.

Authors:  Martin Storr; Dominik Emmerdinger; Julia Diegelmann; Simone Pfennig; Thomas Ochsenkühn; Burkhard Göke; Peter Lohse; Stephan Brand
Journal:  PLoS One       Date:  2010-02-26       Impact factor: 3.240

9.  Celiac disease in a child with ulcerative colitis: a possible genetic association.

Authors:  Sam X Cheng; Aileen Raizner; Uma P Phatak; Judy H Cho; Dinesh S Pashankar
Journal:  J Clin Gastroenterol       Date:  2013-02       Impact factor: 3.062

10.  Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population.

Authors:  Dorra Bouzid; Hajer Fourati; Ali Amouri; Isabel Marques; Olfa Abida; Nabil Tahri; Carlos Penha-Gonçalves; Hatem Masmoudi
Journal:  Mol Biol Rep       Date:  2014-07-19       Impact factor: 2.316

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