To assess the association of AIRE gene polymorphisms with rheumatoid arthritis (RA) among ethnic Han Chinese from Shaan'xi Province.
Genomic DNA was prepared from 384 individuals with RA and 576 healthy controls. Four tag single nucleotide polymorphisms (SNP) in the AIRE gene (rs2075876, rs760426, rs1800520, and rs878081) were genotyped with a SNaPshot method. The genotypic and allelic frequencies were evaluated using a Chi square test. Genotyping data was corrected by Logistic regression for age and gender. The linkage disequilibrium (LD) block structure was examined using Hapview 4.2 software.
All 4 SNPs have conformed to Hardy-Weinberg equilibrium (P > 0.05). Two SNPs were significantly associated with RA, which included G allele of rs2075876 (OR=1.41, 95% CI: 1.17-1.71, P=3.7 × 10(-4)); Dominant model (OR=1.79, 95% CI: 1.21-2.63, P=0.002), Recessive model (OR=1.48, 95% CI: 1.14-1.93, P=0.003). rs760426 A risk allele (OR=1.26, 95% CI: 1.04-1.52, P=0.01); Recessive model (OR=1.33, 95% CI: 1.02-1.73, P=0.03). In addition, rs878081 and rs1800520 SNPs were not allele and genotyped polymorphisms were significantly associated with RA susceptibility.
The rs2075876 and rs760426 loci of the AIRE gene are associated with increased risk for rheumatoid arthritis among ethnic Han Chinese from ShaanXi.