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Polymorphisms of Interleukin-23 Receptor in Patients with Inflammatory Bowel Disease in a Croatian Tertiary Center

The Interleukin-23 signalling pathway, important for the differentiation of TH17 lymphocytes, is involved in the pathogenesis of Inflammatory bowel disease (IBD). Polymorphisms in the IL-23 receptor gene were previously found to be associated with IBD in various populations. The specific rs11209026 and rs7530511 single-nucleotide polymorphisms in the Interleukin-23 receptor gene were determined and associations with Crohn's disease (CD) and ulcerative colitis (UC) were assessed in a Croatian patient population. A total of 50 patients with CD and 93 patients with UC, as well as 99 healthy control subjects were included in the study. In the combined population (IBD, UC+CD), the rs11209026 A allele was differentially distributed between cases and controls (2.1 vs 7.1%, P=0.014), indicating a significant reduction in IBD risk for carriers (allelic OR 0.28 ; 95% CI 0.11-0.75). With respect to each of the populations, the prevalence of the uncommon rs11209026 p.381Gln variant was lower in CD, but not UC patients compared to healthy controls, suggesting a protective effect against CD. Genotype distributions showed that a significantly reduced risk of IBD (OR 0.27, 95% CI 0.1-0.72), limited most likely to the CD phenotype only (MUE 0.09, 95% CI 0-0.54), was observed for heterozygous A/G carriers as compared with the homozygous G/G genotype. No minor allele homozygotes or heterozygotes were observed for CD cases, nor were rare AA homozygotes observed in any other study group. There was no significant association between the rs7530511 polymorphism with either UC or CD. The results suggest a protective effect of the rs11209026 polymorphism for IBD (limited primarily to CD). The investigated associations give potentially important insight into the roles of specific Interleukin-23 receptor polymorphisms in CD pathogenesis in the Croatian population.

inflammatory bowel disease; Crohn's disease; ulcerative colitis; interleukin-23 receptor; polymorphism

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