The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease

Background and aims. Linkage of inflammatory bowel diseases to chromosome 12p13.2–q24.1 (IBD2) has been confirmed in several genome wide screens. The STAT6 gene is located within this chromosomal region. The transcription factor STAT6 is involved in the regulation of the TH1/TH2 immune response. Increased production of TH1 cytokines is crucial in the pathogenesis of Crohn's disease. Patients and methods. Therefore, we genotyped a single nucleotide polymorphism in the 3′ untranslated region of the STAT6 gene (G2964A) in 243 patients with Crohn's disease, 100 patients with ulcerative colitis and 548 healthy controls. Results. In comparison to controls, the G allele and the GG genotype frequencies were significantly increased only in Crohn's disease patients without a variation in the CARD15 gene (p < 0.03 and p < 0.02, respectively). Conclusions. Alterations in the STAT6 pathway may play a crucial role in the pathogenesis of distinct subgroups of patients with Crohn's disease.