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Büning, Carsten; Schmidt, Hartmut H.‐J.; Molnár, Tamás; Drenth, Joost PH; Fiedler, Thomas; Gentz, Enno; Todorov, Theodor; Baumgart, Daniel C.; Sturm, Andreas; Nagy, Ferenc; Lonovics, János; de Jong, Dirk J.; Landt, Olfert; Kage, Andreas; Nickel, Renate; Büttner, Janine; Lochs, Herbert; Witt, Heiko
Inflammatory bowel diseases, March 2008, 2008-Mar, 2008-03-00, 20080301, Letnik: 14, Številka: 3Journal Article
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. (Inflamm Bowel Dis 2007)
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in: SICRIS
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