single nucleotide polymorphism rs2075876 in aire gene is a strong rheumatoid arthritis determinant

Rheumatoid arthritis (ra) is a progressive and common autoimmune disease with multifactorial etiology. several pieces of research show that genetic factors play a major role in the incidence of ra. several genome-wide association studies (gwas) have identified the autoimmune regulator (aire) gene as one of the candidate loci. this gene encodes a transcription factor, which is involved in the presentation of self-antigens and the negative selection of self-reactive t-cells in the thymus. studies have indicated that single nucleotide polymorphisms (snps) in the aire gene can change the gene expression and/or function. in the present study, we assessed the possible association between snp rs2075876 (intronic variant) in the aire gene with ra risk in the iranian population. a case-control study using 56 ra patients and 58 control subjects was undertaken to evaluate rs2075876 genotypes using the real-time pcr high resolution melting method (hrm). logistic regression analysis demonstrates that homozygous aa and heterozygous ag genotypes compared with gg genotype increase the risk of ra (aa vs. gg; or=16.43; 95% ci [5.33-50.71] and ag vs. gg; or=3.21; 95% ci [1.22-8.45]). also, individuals with allele a were more frequently affected with ra than subjects with g allele (or=5.81; 95% ci [3.28-10.30]). furthermore, in the patient group, we found a significant correlation between erythrocyte sedimentation rate and c-reactive protein concentration with rs2075876 polymorphism (p<0.05). our findings propose a substantial correlation between rs2075876 polymorphism and ra risk. © 2021 tehran university of medical sciences.