【摘要】 目的研究IRF5基因多态性与中国汉族人系统性红斑狼疮表型的相关性。方法利用Illumina610-Quad芯片和Sequenom MassArray系统对4199例SLE患者和8255例正常对照进行全基因组关联分析,选取芯片中位于IRF5基因上单核苷酸多态性(SNP rs4728142)的分型数据。将病例资料按照临床表型分类,应用SPSS13.0统计软件进行分析。结果病例-病例间分析结果示rs4728142与各表型均无相关性(P>0.05)。亚表型-对照对比分析表明rs4728142位点等位基因频率在除浆膜炎外的其他表型中分布存差异存在统计学意义(P=0.05)。结论 IRF5基因上rs4728142基因多态性与中国汉族人SLE的易感性相关,但与SLE临床表型无明显相关性。更多还原

【Abstract】 Objective To study the association between polymorphism of IRF5 gene and clinical features of systemic lupus erythematosus(SLE)in Chinese Han population.Methods The genotyping analyses of the SNP were conducted using Illumina Human 610-Quad BeadChips and Sequenom MassArray system in 4 199 cases and 8 255 controls.The present study selected genotype data of the SNP rs4728142 within IRF gene,and then classified the cases according to clinical phenotype.The association analyses were performed by SPSS13.0.Results Phenotype case-only analyses identified that the allele frequencies of rs4728142 had no significant difference with all phenotypes(P>0.05).Subphenotype-controls analyses showed that there were significantly different between most subphenotypes and health controls,except for serositis(P=0.05).Conclusion The result indicates that the SNP rs4728142 within IRF5 is associated with SLE in Chinese Han population,but it’s not associated with the clinical features of SLE.更多还原