摘要目的：探讨干扰素调节因子5（IRF5）基因单核苷酸多态性位点与中国陕西汉族RA的相关性。方法通过病例-对照研究，收集576例确诊RA患者和768名对照DNA样本；使用单碱基延伸法对 rs729302、rs2004640、rs752637、rs3807306、rs10954213、rs2280714位点基因分型；采用 t 检验、字2检验，基因分型数据经年龄和性别Logistic回归方法校正。连锁不平衡分析采用Hapview 4.2软件。结果 rs729302位点A等位基因[OR=1.29，95%CI（1.10，1.50），P=5.57×10-3]，显性模式[OR=1.58，95%CI （1.10，2.27），P=0.024]和隐性模式[OR=1.31，95%CI（1.17，1.64），P=0.028]，RA组与对照组比较差异有统计学意义。 rs2004640位点 T 等位基因[OR=1.28，95%CI（1.08，1.54），P=0.039]，显性模式[OR=1.27，95%CI（1.03，1.58），P=0.036]，RA组与对照组比较差异有统计学意义。 rs752637、rs3807306、rs10954213、rs2280714位点RA组与对照组比较差异无统计学意义。结论 IRF5基因rs729302和rs2004640位点，可能是中国陕西汉族RA的易感基因位点。

abstractsObjective Previous studies have shown that genetic variants in the interferons regulatory factor 5 (IRF5) gene are associated with rheumatoid arthritis (RA) in European and Japanese, but not found in Han Chinese. We conducted this study to investigate whether genetic variants in the IRF5 gene are associated with RA in ShaanXi Han Chinese population. Methods This study was collected 576 RA patients and 768 normal controls. Six IRF5 gene polymorphisms (rs729302, rs2004640, rs752637, rs3807306, rs10954213 and rs2280714) were genotyped by the SNaPshot method. T-test and χ2 test were used for statistic analysis. The genotype and allele frequencies were evaluated using the chi square tests. Genotyping data were adjusted by Logistic regression method by age and gender. The linkage disequilibrium (LD) block structure was examined using Hapview 4.2 software. Results Six SNPs inspected complied with Hardy-weinberg equilibrium (P>0.05). Two SNPs were significantly associated with RA: rs729302 A risk allele [OR=1.29, 95%CI (1.10, 1.50), P=5.57×10-3];dominant model [OR=1.58, 95%CI (1.10, 2.27), P=0.024], recessive model [OR=1.31, 95%CI (1.17, 1.64), P=0.028]. rs2004640 T risk allele [OR=1.28, 95%CI (1.08, 1.54), P=0.039]; dominant model [OR=1.27, 95%CI (1.03, 1.58), P=0.036]. In addition, there was no significant difference in rs752637, rs3807306, rs10954213 and rs2280714 SNPs between RA group and control and genotyped polymorphisms were significantly associated with RA susceptibility. Conclusion The present study confirm that rs729302 and rs2004640 in the IRF5 gene is significantly associated with increased risk of RA in ShaanXi Han Chinese population.