Yang Haoyu, Li Jin, Jiang Lifeng, Jiang Xijia, Zhou Xindie, Xu Nanwei
Department of Orthopedics, The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical University, Changzhou, Jiangsu Province, China.
Department of Orthopedic Surgery, The Second Affiliated Hospital of Jiaxing University, Jiaxing City, Zhejiang Province, China.
Braz J Med Biol Res. 2018 Nov 1;51(12):e7944. doi: 10.1590/1414-431X20187944.
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.
自身免疫调节因子（AIRE）是一种在胸腺髓质上皮细胞中表达的转录调节因子，在胸腺细胞教育和阴性选择中起重要作用。几项关于AIRE基因rs878081外显子多态性与不同人群类风湿关节炎（RA）风险之间关联的研究得出了相互矛盾的结果。因此，本病例对照研究纳入了300例RA患者和300例对照，旨在确定这种关联在中国华东地区的汉族人群中是否存在。对AIRE基因的rs878081多态性进行了基因分型。使用卡方检验、遗传模型分析和分层分析估计比值比（OR）和95%置信区间（CI）。遗传模型分析显示TT基因型与RA风险之间存在显著相关性（TT与CC相比，OR：1.89，95%CI：1.03 - 3.47；TT与CC + TC相比，OR：1.84，95%CI：1.02 - 3.31）。对性别、年龄、吸烟和酗酒的分层分析表明，AIRE基因的rs878081多态性增加了非吸烟者患RA的风险。总之，AIRE基因的rs878081多态性增加了中国汉族人群患RA的风险。
