No association of the CARD8 (TUCAN) c. 30T>A (p.C10X) variant with Crohn's disease: A study in 3 independent European cohorts

Carsten Büning, Hartmut H.J. Schmidt, Tamás Molnár, Joost P.H. Drenth, Thomas Fiedler, Enno Gentz, Theodor Todorov, Daniel C. Baumgart, Andreas Sturm, Ferenc Nagy, János Lonovics, Dirk J. De Jong, Olfert Landt, Andreas Kage, Renate Nickel, Janine Büttner, Herbert Lochs, Heiko Witt

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Abstract

Background: A recent study reported that the c.30T>A (p.Cys10Ter; rs2043211) variant, in the CARD8 (TUCAN) gene, is associated with Crohn's disease (CD). The aim of this study was to analyze the frequency of p.C10X in 3 independent European (IBD) cohorts from Germany, Hungary, and the Netherlands. Methods: We included a European IBD cohort of 921 patients and compared the p.C10X genotype frequency to 832 healthy controls. The 3 study populations analyzed were: (1) Germany [CD, n = 317; ulcerative colitis (UC), n = 180], (2) Hungary (CD, n = 149; UC, n = 119), and (3) the Netherlands (CD, n = 156). Subtyping analysis was performed in respect to NOD2 variants (p.Arg702Trp, p.Gly908Arg, c.3020insC) and to clinical characteristics. Ethnically matched controls were included (German, n = 413; Hungarian, n = 202; Dutch, n = 217). Results: We observed no significant difference in p.C10X genotype frequency in either patients with CD or patients with UC compared with controls in all 3 cohorts. Conversely to the initial association study, we found a trend toward lower frequencies of the suggestive risk wild type in CD from the Netherlands compared with controls (P = 0.14). We found neither evidence for genetic interactions between p.C10X and NOD2 nor the C10X variant to be associated with a CD or UC phenotype. Conclusions: Analyzing 3 independent European IBD cohorts, we found no evidence that the C10X variant in CARD8 confers susceptibility for CD.

Original languageEnglish
Pages (from-to)332-337
Number of pages6
JournalInflammatory bowel diseases
Volume14
Issue number3
DOIs
Publication statusPublished - Mar 1 2008

Keywords

  • CARD8
  • Crohn's disease
  • Inflammatory bowel disease
  • TUCAN
  • Ulcerative colitis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Gastroenterology

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    Büning, C., Schmidt, H. H. J., Molnár, T., Drenth, J. P. H., Fiedler, T., Gentz, E., Todorov, T., Baumgart, D. C., Sturm, A., Nagy, F., Lonovics, J., De Jong, D. J., Landt, O., Kage, A., Nickel, R., Büttner, J., Lochs, H., & Witt, H. (2008). No association of the CARD8 (TUCAN) c. 30T>A (p.C10X) variant with Crohn's disease: A study in 3 independent European cohorts. Inflammatory bowel diseases, 14(3), 332-337. https://doi.org/10.1002/ibd.20337