A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn’s disease
| Autor: | Dirk J. de Jong, Carsten Büning, Sabine Buhner, Herbert Büning, Ferenc Nagy, Olfert Landt, János Lonovics, Andreas Kage, Hartmut Schmidt, Verena Haas, Daniel C. Baumgart, Heiko Witt, Andreas Sturm, Herbert Lochs, Tahir Durmus, Tamás Molnár, Enno Gentz, Theodor Todorov, Renate Nickel, Janine Büttner, Thomas Fiedler, Joost P.H. Drenth |
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| Rok vydání: | 2007 |
| Předmět: |
medicine.medical_specialty
Crohn's disease business.industry Gastroenterology Membrane transport and intracellular motility [NCMLS 5] General Medicine Disease medicine.disease Inflammatory bowel disease Ulcerative colitis Genotype frequency Pathogenesis and modulation of inflammation [N4i 1] Genetic defects of metabolism [UMCN 5.1] Internal medicine Genotype Cohort Immunology medicine Molecular gastro-enterology and hepatology [IGMD 2] business ATG16L1 |
| Zdroj: | Journal of Crohn's and Colitis, 1, 70-6 Journal of Crohn's and Colitis, 1, 2, pp. 70-6 |
| ISSN: | 1873-9946 |
| DOI: | 10.1016/j.crohns.2007.08.001 |
| Popis: | Background and aims A recent study reported that a nonsynonymous SNP rs2241880 (c.898A>G, p.Thr300Ala) within ATG16L1 confers susceptibility to Crohn's disease (CD). We analyzed ATG16L1 c.898A>G in three independent European inflammatory bowel disease (IBD) cohorts from Germany, Hungary and the Netherlands. Methods In total, we included 910 European IBD patients and compared the ATG16L1 c.898A>G genotype frequency with 707 ethnically matched healthy controls. We included patients from 3 populations originating from Germany (CD n =310; ulcerative colitis [UC] n =179), Hungary (CD n =147; UC n =117), and the Netherlands (CD n =157). Subtyping analysis was performed in respect to CARD15 alterations and clinical characteristics. Results We found a highly significant association of c.898A>G to CD. The association was significant ( p =0.0005) for the total CD cohort but also for the individual populations from Germany ( p =0.02) and Netherlands ( p =0.02) whereas in the Hungarian CD patients a clear trend was observed ( p =0.19; OR 1.227, 95% CI 0.910; 1.654). No association was found between c.898A>G and UC. No statistical interactions were observed between ATG16L1 c.898A>G and C ARD15 variants. Furthermore no association to a CD subphenotype was detected. Conclusions We confirm that ATG16L1 variant c898A>G confers a risk variant for CD but is not associated with a distinct CD phenotype. |
| Databáze: | OpenAIRE |
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