Feng Zhong-Jun, Zhang Shu-Lan, Wen Hai-Feng, Liang Yun
Department of Laboratory Medcine, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, China.
Department of Laboratory Medcine, Hospital of Traditional Chinese Medicine of Shijiazhuang City, Shijiazhuang 050051, China.
Hum Immunol. 2015 Apr;76(4):281-5. doi: 10.1016/j.humimm.2015.01.026. Epub 2015 Jan 29.
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).
We genotyped 9 SNPs of AIRE gene of recruited 691 patients of rheumatoid arthritis and 800 healthy people in Chinese Han population.
Our results indicated that a variant rs2075876 with minor allele A increased the risk of rheumatoid arthritis (pa=0.008, OR=1.991, 95%CI 1.214-2.919). Other two SNPs rs933150 and rs760426 were borderline-associated with rheumatoid arthritis risk (pa=0.055; pa=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 (pa=0.020).
We might provide a new inside look into the AIRE gene variants in development and progression of rheumatoid arthritis.
自身免疫调节因子（AIRE）是由AIRE基因编码的一种蛋白质，是一种主要在胸腺髓质上皮细胞（mTECs）中表达的转录因子。它在人类免疫学调节中起关键作用。AIRE基因突变或蛋白质水平变化会改变机体免疫状态，进而引发疾病。因此，我们旨在研究AIRE基因与类风湿关节炎（RA）风险的关联。
我们对招募的691例中国汉族类风湿关节炎患者和800名健康人的AIRE基因的9个单核苷酸多态性（SNP）进行了基因分型。
我们的结果表明，次要等位基因A的变异rs2075876增加了类风湿关节炎的风险（P=0.008，比值比[OR]=1.991，95%可信区间[CI]为1.214-2.919）。另外两个SNP rs933150和rs760426与类风湿关节炎风险存在临界关联（P分别为0.055和0.074）。此外，在对AIRE基因中的SNP与类风湿关节炎临床特征的相关性分析中，我们发现SNP rs2075876与C反应蛋白（CRP）浓度存在显著相关性（P=0.020）。
我们可能为类风湿关节炎发生发展过程中的AIRE基因变异提供了新的见解。
