title: No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohorts.
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.
authors: Department of Gastroenterology, Hepatology & Endocrinology, Charité, Campus Mitte, Universitätsmedizin Berlin, Germany.
authors: Carsten
authors: C
authors: Büning
authors: Hartmut H-J
authors: HH
authors: Schmidt
authors: Tamás
authors: T
authors: Molnár
authors: Joost Ph
authors: JP
authors: Drenth
authors: Thomas
authors: T
authors: Fiedler
authors: Enno
authors: E
authors: Gentz
authors: Theodor
authors: T
authors: Todorov
authors: Daniel C
authors: DC
authors: Baumgart
authors: Andreas
authors: A
authors: Sturm
authors: Ferenc
authors: F
authors: Nagy
authors: János
authors: J
authors: Lonovics
authors: Dirk J
authors: DJ
authors: de Jong
authors: Olfert
authors: O
authors: Landt
authors: Andreas
authors: A
authors: Kage
authors: Renate
authors: R
authors: Nickel
authors: Janine
authors: J
authors: Büttner
authors: Herbert
authors: H
authors: Lochs
authors: Heiko
authors: H
authors: Witt
mesh_terms: D000328:Adult; D000483:Alleles; D017209:Apoptosis; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany / Q000453:epidemiology; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D016133:Polymerase Chain Reaction; D015995:Prevalence
chemical_list: D053468:CARD Signaling Adaptor Proteins; C455623:CARD8 protein, human; C429018:NOD2 protein, human; D009363:Neoplasm Proteins; D053473:Nod2 Signaling Adaptor Protein; D004247:DNA