MicroRNA基因单核苷酸多态性与类风湿关节炎的相关性研究

摘要

目的 分析类风湿关节炎(RA)患者和健康人群microRNA-146a(miR-146a)、miR-499a、miR-149及miR-196a多态性位点的相关rs2910164、rs3746444、rs2292832及rs11614913等位基因和基因型频率分布的差异.探讨其与类风湿关节炎(RA)发病风险的相关性,以及与疾病活动性及严重性的关系.方法 收集600例RA患者和398例健康人群的外周静脉血,提取基因组DNA,采用基于连接酶检测反应的单核苷酸多态位点(SNP)分型技术对研究对象的4个SNP位点进行检测.结果 rs3746444位点的CT基因型与中国汉族人群RA疾病的活动性和严重性相关,并且rs11614913位点(miR-196a)与性别存在交互作用,可能与RA发病有关.结论 miR-499a的rs3746444位点的CT基因型可能与中国汉族人群RA疾病的活动性和严重性相关.%Objective To identify the associations of single nucleotide polymorphism (SNP) loci rs2910164, rs3746444, rs2292832 and rs11614913 of miR-146a, miR-499a, miR-149 and miR-196a with rheumatoid arthritis (RA) in a Chinese Han population. Methods A case-control genetic association study was carried out in 600 patients with RA and 398 healthy individuals. The four SNPs were selected for genotyping by multiplex polymerase chain reaction and ligase detection reaction. Results The rs3746444 CT genotype was correlated with the activity and severity of RA in Chinese Han population. Moreover, gene-sex (rs11614913-sex) interaction was identified by GMDR analysis. However, we did not find any significant association of rs2910164, rs2292832 or rs11614913 with RA risk, severity, or activity. Conclusions The miR-499a polymorphism (rs3746444) is associated with the disease severity and activity of RA, which needs further replication and validation.