论文部分内容阅读
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。
Objective To investigate the association between IRF5 gene polymorphisms and phenotypes of SLE in Chinese Han population. Methods Whole genome association analysis was performed on 4199 SLE patients and 8255 normal controls using Illumina610-Quad and Sequenom MassArray systems. The genotyping data of single nucleotide polymorphism (SNP rs4728142) in the IRF5 gene of the chip was selected. The case data were classified according to clinical phenotypes and analyzed using SPSS 13.0 statistical software. Results Case-case analysis showed no correlation between rs4728142 and each phenotype (P> 0.05). Sub-phenotype-control comparative analysis showed that the frequency of rs4728142 allele distribution in other phenotypes except serositis was significantly different (P = 0.05). Conclusion The rs4728142 gene polymorphism in IRF5 gene is associated with the susceptibility to SLE in Han Chinese, but not with the clinical phenotype of SLE.