TY - JOUR
T1 - No association of the CARD8 (TUCAN) c. 30T>A (p.C10X) variant with Crohn's disease
T2 - A study in 3 independent European cohorts
AU - Büning, Carsten
AU - Schmidt, Hartmut H.J.
AU - Molnár, Tamás
AU - Drenth, Joost P.H.
AU - Fiedler, Thomas
AU - Gentz, Enno
AU - Todorov, Theodor
AU - Baumgart, Daniel C.
AU - Sturm, Andreas
AU - Nagy, Ferenc
AU - Lonovics, János
AU - De Jong, Dirk J.
AU - Landt, Olfert
AU - Kage, Andreas
AU - Nickel, Renate
AU - Büttner, Janine
AU - Lochs, Herbert
AU - Witt, Heiko
PY - 2008/3
Y1 - 2008/3
N2 - 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.
AB - 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.
KW - CARD8
KW - Crohn's disease
KW - Inflammatory bowel disease
KW - TUCAN
KW - Ulcerative colitis
UR - http://www.scopus.com/inward/record.url?scp=41149132262&partnerID=8YFLogxK
U2 - 10.1002/ibd.20337
DO - 10.1002/ibd.20337
M3 - Article
C2 - 18092344
AN - SCOPUS:41149132262
SN - 1078-0998
VL - 14
SP - 332
EP - 337
JO - Inflammatory Bowel Diseases
JF - Inflammatory Bowel Diseases
IS - 3
ER -