The rs878081 polymorphism of AIRE gene increases the risk of rheumatoid arthritis in a Chinese Han population: a case-control study

Abstract

The autoimmune regulator (AIRE), a transcriptional regulator expressed in medullary thymic epithelial cells, plays an important role in thymocyte education and negative selection. Several citations studying the association between the rs878081 exon polymorphism of the AIRE gene and the risk of rheumatoid arthritis (RA) in different populations have yielded conflicting findings. Thus, this case-control study involving 300 RA cases and 300 controls was aimed to identify whether such association existed in a Chinese Han population from East China. The rs878081 polymorphism of the AIRE gene was genotyped. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using the chi-squared test, genetic model analysis, and stratification analysis. Genetic model analysis showed significant correlations between the TT genotype and the risk of RA (OR: 1.89, 95%CI: 1.03-3.47 in TT vs CC; OR: 1.84, 95%CI: 1.02-3.31 in TT vs CC+TC). Stratification analyses of sex, age, smoking, and alcoholism suggested that the rs878081 polymorphism of the AIRE gene increased RA risk among non-smokers. In conclusion, rs878081 polymorphism of AIRE gene increases the risk of RA in a Chinese Han population.

Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of AIRE Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population

“…The association of allelic polymorphisms and RA risk was initially identified in Asian populations, particularly in Japanese GWASs. In these study, it was found that rs2075876 and rs760426 were significantly associated with RA risk, with p-values of 5.1 × 10 −4 and 2.0 × 10 −4 , respectively, among 471 SNPs [30,[59][60][61][62][63]. Our study population accurately reflects the European population, and it is important to note that the allele frequencies and functions of the rs2075876 locus may differ in RA development compared to those in Asian populations.…”

Association BetweenAIREPolymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study

“…In Asian populations, a strong association was found between rs2075776, rs760426, and RA in different genetic models (24,(52)(53)(54)(55). Furthermore, Terao et al demonstrated genotypespecific AIRE expression in lymphoblastoid cells using the Gene Expression Omnibus database and raised the idea that different genotypes may alter disease activity (56). Allelic polymorphisms of rs878081 have been analyzed in Chinese, Egyptian, and Spanish populations (25,56,57).…”

“…Furthermore, Terao et al demonstrated genotypespecific AIRE expression in lymphoblastoid cells using the Gene Expression Omnibus database and raised the idea that different genotypes may alter disease activity (56). Allelic polymorphisms of rs878081 have been analyzed in Chinese, Egyptian, and Spanish populations (25,56,57). Yang et al measured AIRE expression in blood lymphocytes and found significant differences between rs878081 TT and CC homozygotes in Asian populations (56).…”

“…Allelic polymorphisms of rs878081 have been analyzed in Chinese, Egyptian, and Spanish populations (25,56,57). Yang et al measured AIRE expression in blood lymphocytes and found significant differences between rs878081 TT and CC homozygotes in Asian populations (56).…”