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

摘要

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 GIG, 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.%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STAT4mRNA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STAT4mRNA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 STAT4rs7574865位点SNP与STAT4mRNA表达水平具有相关性,具有G/T型的SLE患者的STAT4mRNA表达水平显著增高.