Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 59 5 2021 07 05 259 264 EN Mansour Salesi Department of Internal Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Elham Noormohamadi Department of Internal Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Bahram Pakzad Department of Internal Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Farzaneh Yousefisadr Department of Internal Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Rasoul Salehi Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran 2020 04 26 2021 04 18 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 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 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. https://acta.tums.ac.ir/index.php/acta/article/view/8421