系统性红斑狼疮患者信号转导及转录激活因子4基因单核苷酸多态性与其mRNA表达水平的相关性研究  

Correlation of STAT4 gene single nucleotide polymorphism with mRNA level in peripheral blood mononuclear cells in patients with systemic lupus erythematosus

作　　者：李博 胡秋侠 钟贵芳 何伟珍[1] 孔卫红[1] 陈雅硕[1] 谢燕[1] 陈新鹏[1] 戴莉萍[1] 黄进贤[1] 叶志中[1] 

机构地区：[1]深圳市第四人民医院香蜜湖风湿病分院风湿科,广东深圳518040 [2]深圳市福田区第二人民医院门诊,广东深圳518040 [3]深圳市第四人民医院急诊科,广东深圳518040

出　　处：《海南医学》2013年第4期471-473,共3页Hainan Medical Journal

基　　金：深圳市医学重点学科建设经费资助(编号:2005C10);深圳市科技计划项目(医疗卫生类)资助(编号:201002145)

摘　　要：目的探讨系统性红斑狼疮中信号转导和转录激活因子4(STAT4)基因rs7574865位点单核苷酸多态性(SNP)与其mRNA表达水平之间的相关性。方法以TaqMan MGB探针法在163例SLE患者中对STAT4基因rs7574865位点的SNP进行分型,用TaqMan实时荧光定量聚合酶链反应法检测以上患者外周血单个核细胞(PBMC)中STAT4 mRNA表达水平,并分析两者之间的关系。结果 SLE患者中G等位基因频率为49.7%,T等位基因频率为50.3%,G/G型纯合子患者的比例为22.7%,G/T型杂合子患者的比例为65.0%,T/T型纯合子患者的比例为12.3%。具有G/T型的SLE患者的STAT4 mRNA表达水平显著高于具有G/G型或T/T型的SLE患者(P<0.05)。结论 STAT4 rs7574865位点SNP与STAT4 mRNA表达水平具有相关性,具有G/T型的SLE患者的STAT4 mRNA表达水平显著增高。Objective To explore the impact of signal transducer and activator of transcription 4 （STAT4） gene single nucleotide polymorphisms （SNPs） on mRNA level in peripheral blood mononuclear cells （PBMC） in patients with systemic lupus erythematosus （SLE）. Methods Peripheral blood samples from SLE （n=163） were used to detect STAT4 SNPs at locus rs7574865 by TaqMan MGB and to evaluate mRNA level of STAT4 in PBMC by TaqMan real-time RT-PCR. Results The prevalence rates of G allele and T allele were 49.7% and 50.3% respectively. The prevalence rates of G/G, G/T, T/T genotype were 22.7%, 65.0% and 12.3%, respectively. The mRNA level of STAT4 in PBMC was significantly higher in patients with G/T genotype than patients with G/G or T/T genotype （P〈0.05）. Conclusion This study identified a strong association of STAT4 SNPs at locus rs7574865 with mRNA level in PBMC. Patients with G/T genotype showed higher STAT4 mRNA expression.

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 

分 类 号：R593.241[医药卫生—内科学]