No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: A study in 3 independent European cohorts
✍ Scribed by Carsten Büning; Hartmut H.-J. Schmidt; Tamás Molnár; Joost PH 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
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 97 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1078-0998
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✦ Synopsis
Background: A recent study reported that the c.30TϾA (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 ϭ 317; ulcerative colitis (UC), n ϭ 180], (2) Hungary (CD, n ϭ 149; UC, n ϭ 119), and (3) the Netherlands (CD, n ϭ 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 ϭ 413; Hungarian, n ϭ 202; Dutch, n ϭ 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 ϭ 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.