POLYMORPHISM OF IL10, CTLA4 GENES AND PREDISPOSITION TO RHEUMATOID ARTHRITIS
Background. Rheumatoid arthritis (RA) is a systemic autoimmune disease, accompanied by chronic inflammation of the joints synovial membrane and a wide spectrum of extra-articular manifestations. Today, the problem of early diagnosis and detection of new RA markers remains very relevant. The aim of the study. The aim of this work was to search for associations of variants of the IL10 gene -592C>A and of the CTLA4 gene +6230G>A polymorphic loci with the RA development in the Republic of Bashkortostan population. Materials and methods. The study included 204 RA patients and 324 controls from the Republic of Bashkortostan (Russian Federation). The molecular genetic analysis of the IL10 gene -592C>A (rs1800872) and of the CTLA4 gene +6230G>A (CT60 G>A, rs3087243) polymorphic loci was performed using the real-time polymerase chain reaction. Statistical analysis of the data was carried out using the chi-square (χ2) test with the Yates correction. The differences were considered statistically significant at p<0.05. For the identified markers, the odds ratio (OR) with a 95% confidence interval (95% CI) was calculated. Results. When studying the IL10 gene -592C>A polymorphic locus, it was established that the CC genotype is associated with an increased risk of the RA development (p=0.042, OR=1.467, 95% CI 1.015-2.122), while the CA genotype – with a reduced risk of the disease (p=0.017, OR=0.634, 95% CI 0.436-0.922). After stratification according to ethnicity, both associations were characteristic to the Bashkirs (CC: p=0.036, OR=3.221, 95% CI 1.070-9.879 and CA: p=0.008, OR=0.224, 95% CI 0.071-0.692). The differences between Russian RA patients and controls reached a statistical significance level only for the CA genotype (p=0.027, OR=0.470, 95% CI 0.239-0.923). The frequency distribution of the IL10 gene -592C>A polymorphic locus genotypes and alleles between the Tatar RA patients and controls was statistically indistinguishable (p>0.8). Associations with the RA development for the CTLA4 gene +6230G>A polymorphic locus variants were not observed. Conclusion. Thus, in this paper, the relationship between the IL10 gene -592C>A polymorphic locus variants with the RA development in the Republic of Bashkortostan population was revealed (taking into account ethnic features). The evidence of any significant contribution of the CTLA4 gene +6230G>A polymorphism to the RA predisposition was not established.
Danilko KV, Nazarova LSh, Khabibullina RR, et al. Polymorphism of IL10, CTLA4 genes and predisposition to rheumatoid arthritis. Research Result. Medicine and Pharmacy. 2018;4(2):18-25 (In Russian)].
DOI: 10.18413/2313-8955-2018-4-2-0-3
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