The aim of the study: Three polymorphisms (1007fs, G908R, R702W) in the CARD15 gene have been repeatedly shown to be associated with Crohn’s disease (CD), but not with ulcerative colitis (UC). However, data on this association from the central and eastern part of Europe are scarce. The aim of our study was to analyze the association in the Czech population.

Methods: Genotype, phenotype and allelic frequencies were compared between patients with CD (n=161), UC (n=46) and 297 control subjects. The genotypes of polymorphisms 1007fs, R702W, G908R, P268S, V955I, and N289S were determined using TaqMan SNP assays. Association was first assessed in univariate analyses, and then in a multiple logistic regression model.

Results: Four variants in the CARD15 gene were associated with CD, 1007fs (OR=5.8 [95%CI 3.5 - 9.5]), 908R (OR=3.8 [95%CI 1.6 - 8.6]), 702W (OR=1.7 [95%CI 0.9 - 3.3]), 268S (OR=2.2 [95%CI 1.5 - 3.3]), while the 298S and 955I variants were not associated. No variants were associated with UC. Two variants (1007fs, G809R) were independently associated with CD in a multiple logistic regression model.

Conclusion: We observed a strong association between CD and the 1007fs polymorphisms, with a moderate independent contribution of G908R variants.

Supported by grants of the Czech Ministry of Health 00064203, University Hospital Motol and GAUK 7660/2007