ITGA4, ITGB7, TNFα, IL10 genes polymorphisms in the ethnic Buryat patients with ulcerative colitis

Abstract

Background: Worldwide studies of genetic material, polymorphisms and prognostic gene models for immune-associated disorders have established differences in trans-ethnic population cohorts, which determine phenotypic and other characteristics of the course of these diseases. Ulcerative colitis (UC) is a  chronic immune inflammation of the colon mucosa. More than 100 gene polymorphisms associated with multiple integrated cross-talks have been discovered.Aim: To study the ITGA4, ITGB7, TNFα, IL10 genes polymorphisms in patients with ulcerative colitis belonging to the Buryat ethnic group and living in Irkutsk region, Buryat Republic and Transbaikal territory.Materials and methods: The study included a total of 49 subjects, 24 of them being UC patients and 25 healthy volunteers, compatible in gender, age and ethnic background. The molecular genetic analysis by real time polymerase chain reaction was performed with DNA samples from whole peripheral blood leucocytes.Results: The differences in the prevalence of the ITGA4(rs1143674, rs1449263), ITGB7(rs11574532), TNFα(rs1800629), and IL10(rs1800871) genotypes were non-significant (р>0.05). The IL10(rs1800896) GG homozygote patients had higher odds ratio (OR) for UC compared to the carriers of other polymorphisms (OR 24; 95%  confidence interval (CI) 2.783–206.969; р=0.001). The AA homozygote type was less frequent among UC patients compared to healthy volunteers (OR 0.17; 95%  CI 0.049–0.589; р=0.004). The analysis of genotype frequency distribution of all studied genes including clinical characteristics of the disease showed no significant results (р>0.05). The binary logistic regression analysis has shown that IL10(rs1800896)GG was an UC predictor with sensitivity of 96% and specificity of 50%  (AUC 0.760; 95% CI 0.621–0.899; p=0.002; standard error 0.71).Conclusion: The GG genotype of IL10(rs1800896) is a  UC predictor, whereas the AA genotype is significantly more prevalent among healthy subjects of the Buryat cohort.