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.
Highlights
Rheumatoid arthritis (RA), an autoimmune disease affected by multiple factors [1], could cause critical functional impairment and work-related disability despite its low prevalence (B1%) [1]
The autoimmune regulator (AIRE) is a transcriptional regulator expressed in thymic medullary cells [5]
Experimental studies show that single nucleotide polymorphisms (SNPs) alter transcription of the AIRE gene, which is located in the 21q22.3 region, B12.5 kb long, encoding a 545 amino acid protein of 58 kDa by 14 exonial sequences [6]
Summary
Rheumatoid arthritis (RA), an autoimmune disease affected by multiple factors [1], could cause critical functional impairment and work-related disability despite its low prevalence (B1%) [1]. Experimental studies show that single nucleotide polymorphisms (SNPs) alter transcription of the AIRE gene, which is located in the 21q22.3 region, B12.5 kb long, encoding a 545 amino acid protein of 58 kDa by 14 exonial sequences [6]. Several citations [11,12,13] studying the association between the AIRE gene rs878081 polymorphism and RA risk in different populations brought conflicting findings. There is no association study of this SNP among the Chinese Han population in East China. This case-control study aimed to investigate whether rs878081 polymorphism of the AIRE
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