标题：STAT4基因rs7574865位点单核苷酸多态性与系统性红斑狼疮的相关性

      作者：吴系美，胡秋侠，李博，佘若男，谭锦辉，胡建云    (深圳市龙华新区人民医院风湿免疫科，广东 深圳 518109)

      卷次： 2018年29卷21期

      【摘要】 目的 探讨信号转导子及转录激活因子4 (STAT4)基因的 rs7574865位点的单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)发病的相关性及其临床意义。方法 2012年9月至2017年10月，收集163例来自深圳市龙华区人民医院风湿免疫科的符合入选标准的中国SLE患者作为研究对象。以TaqMan MGB探针法对以上患者和102例正常对照者进行STAT4基因 rs7574865位点的SNP分型，比较各基因型及等位基因频率在正常人群和SLE患者中的差异，并分析其与SLE患者临床特点之间的关系。结果 SLE组患者中STAT4基因 rs7574865位点G等位基因频率为49.7%，明显低于正常对照组的64.7%，而T等位基因频率为50.3%，明显高于正常对照组的35.3%，差异均有统计学意义(P<0.05)；SLE组患者中G/G型纯合子患者的比例为22.7%，明显低于正常对照组的46.2%，而G/T型杂合子患者的比例为65.0%，明显高于正常对照组的41.2%，差异均有统计学意义(P<0.05)；具有G/G基因型的SLE患者出现雷诺现象、肾脏累及、抗ds-DNA抗体阳性的比例分别为86.5%、83.8%及81.1%，明显高于具有G/T基因型及T/T基因型的SLE患者，差异均有统计学意义(P<0.05)；具有G/G基因型的SLE患者的SLEDAI评分平均(11.3±4.6)分，明显高于G/T基因型SLE患者的(6.1±2.4)分及T/T基因型SLE患者的(5.9±2.0)分，差异均有统计学意义(P<0.05)。结论 STAT4基因 rs7574865位点的SNP与SLE的发病相关，并且与SLE的临床特点有关，提示STAT4可能与SLE的发病相关。
      【关键词】 信号转导和转录激活因子4；单核苷酸多态性；系统性红斑狼疮；相关性
      【中图分类号】 R593.24+1 【文献标识码】 A 【文章编号】 1003—6350（2018）21—3013—04

Association of STAT4 rs7574865 polymorphism with systemic lupus erythematosus.
WU Xi-mei, HU Qiu-xia, LI Bo,SHE Ruo-nan, TAN Jin-hui, HU Jian-yun. Department of Rheumatology, the People’s Hospital of Longhua New District ofShenzhen, Shenzhen 518109, Guangdong, CHINA
【Abstract】 Objective To investigate the relationship between single nucleotide polymorphisms (SNP) ofSTAT4 gene and systemic lupus erythematosus (SLE), and its clinical significance. Methods A total of 163 cases of pa-tients with SLE meeting the inclusion criteria, who admitted to Department of Rheumatology of the People’s Hospital ofLonghua New District of Shenzhen from September 2012 to October 2017, were collected as research objects. The SNPof STAT4 rs7574865 polymorphism was detected by TaqMan method in 163 patients with SLE and in 102 matchedhealthy controls. The association of STAT4 rs7574865 polymorphism with disease activity and clinical features of SLEwere analyzed. Results The frequency of G allele of STAT4 rs7574865 in the patients with SLE was 49.7%, which wassignificantly lower than 64.7% in the healthy control group; the frequency of T allele of STAT4 rs7574865 was 50.3%,which was significantly higher than 35.3% in the healthy control group． The frequency of G/G genotype of STAT4·论 著·doi:10.3969/j.issn.1003-6350.2018.21.016基金项目：广东省医学科研基金立项课题资助(编号：A2013611)；广东省深圳市卫生计生系统科研项目(编号：201501051、201601060)；广东省深圳市龙华区科技创新资金项目(编号：2017019)