Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk

Background Autoimmune regulator (AIRE), a protein encoded by AIRE gene, is a transcriptional factor primarily expressed in medullary thymic epithelial cells (mTECs). It has pivotal role in regulation of human immunology. The mutations of AIRE gene or protein level changes would alter the status of body immunity and therefore onset of diseases. Therefore we aimed at investigating the association of AIRE gene with the risk of rheumatoid arthritis (RA). Methods We genotyped 9 SNPs of AIRE gene of recruited 691 patients of rheumatoid arthritis and 800 healthy people in Chinese Han population. Results Our results indicated that a variant rs2075876 with minor allele A increased the risk of rheumatoid arthritis ( p a = 0.008, OR = 1.991, 95%CI 1.214–2.919). Other two SNPs rs933150 and rs760426 were borderline-associated with rheumatoid arthritis risk ( p a = 0.055; p a = 0.074, respectively). Furthermore, in correlation analysis of SNPs in AIRE gene with clinical characteristics of rheumatoid arthritis, we found the SNP rs2075876 had significant correlation with CRP concentration ( p a = 0.020). Conclusion We might provide a new inside look into the AIRE gene variants in development and progression of rheumatoid arthritis.