STAT4基因启动子区单核苷酸多态性与系统性红斑狼疮相关性研究  

The relevant research of STAT4 rs16833431 single nulcleotide polymorphism with susceptibility of systemic lupus erythematosus in the Chinese Han ethnic population from Shenzhen

作　　者：孙保东[1,2] 洪小平[1,2] 蔡文虹[1,2] 李铁敏[1,2] 谭艳红[1,2] 刘冬舟[1,2] 

机构地区：[1]深圳市人民医院风湿科 [2]暨南大学第二临床医学院,广东深圳518020

出　　处：《临床和实验医学杂志》2013年第13期999-1000,共2页Journal of Clinical and Experimental Medicine

基　　金：深圳市科技信息局资助项目;编号:200902028

摘　　要：目的检测深圳地区汉族人群信号转导和转录活化因子4(STAT4)基因单核苷酸多态性(SNP),探讨其与系统性红斑狼疮遗传易感性之间的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对74例SLE患者和95例正常对照STAT4基因启动子区rs16833431 A>G位点进行检测,计算其基因型和等位基因频率,并结合临床进行分析。结果 SLE患者STAT4 rs16833431位点基因型频率AA(16.2%)、AG(47.3%)、GG(36.5%),等位基因频率A(39.9%)、G(60.1%),与正常对照组基因型频率AA(16.8%)、AG(45.3%)、GG(37.9%)和等位基因频率A(39.5%)、G(60.5%)相比无统计学差异(P>0.05)。结论 STAT4基因rs l6833431 A>G位点多态性与深圳汉族人群SLE遗传易感性无相关性。Objective To explore the association between gene polymorphisms of signal tranaducer and activator of transcription 4（STAT4） in the Chinese Han systemic lupus erythematosus（SLE） patients.Methods PCR-RFLP technique was used to demonstrate genotype single nucleotide polymorphisms（SNP） of STAT4 genes（rs l6833431） in 74 SLE patients and 95 normal individuals.The genotype and allele frequencies were calculated and analyzed.Results The genotype frequencies of AA,AG,GG and allele frequencies of A,G in STAT4 rs16833431 in SLE patients were 0.162,0.473,0.365 and 0.399,0.601,respectively,comparing with 0.168,0.453,0.379 and 0.395,0.605 in normal controls.There was no statistical difference for genotype or allele frequencies between SLE and normal controls（P〈0.05）.Conclusion STAT4 rs16833431 A G polymorphisms may not be a genetic risk factor for the pathogenesis of SLE from Shenzhen Chinese Han ethnic population.

关 键 词：系统性红斑狼疮 信号转导和转录活化因子 4 多态性 单核苷酸 遗传易感性 

分 类 号：R593.241[医药卫生—内科学]