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

Carsten Büning, Tahir Durmus, Tamas Molnar, Dirk J. de Jong, Joost P.H. Drenth, Thomas Fiedler, Enno Gentz, Theodor Todorov, Verena Haas, Sabine Buhner, Andreas Sturm, Daniel C. Baumgart, Ferenc Nagy, Janos Lonovics, Olfert Landt, Andreas Kage, Herbert Büning, Renate Nickel, Janine Büttner, Herbert LochsHartmut H.J. Schmidt, Heiko Witt

Research output: Article

15 Citations (Scopus)

Abstract

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 CARD15 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.

Original languageEnglish
Pages (from-to)70-76
Number of pages7
JournalJournal of Crohn's and Colitis
Volume1
Issue number2
DOIs
Publication statusPublished - dec. 1 2007

ASJC Scopus subject areas

  • Gastroenterology

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    Büning, C., Durmus, T., Molnar, T., de Jong, D. J., Drenth, J. P. H., Fiedler, T., Gentz, E., Todorov, T., Haas, V., Buhner, S., Sturm, A., Baumgart, D. C., Nagy, F., Lonovics, J., Landt, O., Kage, A., Büning, H., Nickel, R., Büttner, J., ... Witt, H. (2007). 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. Journal of Crohn's and Colitis, 1(2), 70-76. https://doi.org/10.1016/j.crohns.2007.08.001