The CTLA4 gene is associated with several immunopathologic diseases and because of its important immuno-regulatory role it may be considered also a plausible candidate for a genetic association with inflammatory bowel diseases. The aim of this study was to assess the association in the Czech population, using a set of markers shown to associate with other diseases.
No crude associations with Crohn's disease were found for the tested CTLA4 variants under the log-additive or dominant models. However, a protective effect of a CTLA4 haplotype was unmasked after stratification for the risk variants in the NOD2 and IL23R genes, and may point towards the biological relevance of the molecule in the pathogenesis of the disease.