CTLA4/CT60 POLYMORPHISM IS NOT RELEVANT IN SUSCEPTIBILITY TO AUTOIMMUNE INFLAMMATORY INTESTINAL DISORDERS

Abstract

Aim: The aim of this work was to investigate the possible influence of the recently described CT60 A/G (SNP 3087243) dimorphism of the CTLA4 gene, which interestingly has been recently associated with functional relevance and with susceptibility to a variety of autoimmune diseases, in the susceptibility to IBD and celiac disease. Methods: We analysed a case-control cohort composed of a total of 528 Spanish IBD patients (284 with Crohn's disease and 244 with ulcerative colitis) and 454 unrelated healthy individuals, and additionally a group of 90 celiac disease families. CT60 genotyping was performed using a Taqman 5' allelic discrimination assay. Results: After comparing IBD patients with the control population we found no significant deviation in the distribution of the alleles or genotypes of CTLA4/CT60 dimorphism. In addition, using familial and case-control analysis, no evidence for a statistically significant association was observed between CTLA4/CT60 and celiac disease susceptibility. Summary: In this work we investigated for the first time the role of CTLA4/CT60 polymorphism in IBD susceptibility and no association was observed. In addition we have observed that CTLA4/CT60 polymorphisms is not relevant for celiac disease predisposition in our population, accordingly with recent studies that observed no association or borderline significance between this genetic marker and celiac disease susceptibility. Conclusion: Our results suggest that the CTLA4/CT60 polymorphism does not play a major role in autoimmune inflammatory intestinal disorders.