Immunology Department, Shahid Sadoughi University of Medical Sciences (International Campus), Yazd, Iran.
Inflammation. 2013 Dec;36(6):1548-52. doi: 10.1007/s10753-013-9698-8.
Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease with complex genetic inheritance that affecting different organs and systems. STAT4 has been newly identified as a susceptible gene in the development of SLE. According to recent studies, STAT4 has been associated with SLE in various populations. We investigated whether STAT4 single nucleotide polymorphisms (SNPs) were associated with susceptibility and clinical features of SLE in Iranian patients. The study group comprised 280 patients with SLE and 281 sex-, age-, and ethnicity-matched healthy controls of Iranian ancestry. Two SNPs (rs7574865 and rs7601754) were genotyped using the TaqMan MGB Allelic Discrimination method. Our results showed a significant association between rs7574865 T allele (odds ratio (OR) = 1.50, 95 % CI = 1.18-1.92, P = 0.002) and susceptibility to SLE. The rs7574865TT genotype (P = 0.02, OR = 1.94, 95 % CI = 1.74-3.19) and GT genotype (P = 0.008, OR = 1.71, 95 % CI = 1.19-2.45) showed a significant association with the risk of SLE in the Iranian population. We concluded that STAT4 rs7574865 is associated with SLE susceptibility in the Iranian population and this SNP might be a factor in the pathogenesis of SLE. However, further studies are required to investigate the mechanism by which polymorphisms in this gene lead to SLE.
系统性红斑狼疮(SLE)是一种多因素自身免疫性疾病,具有复杂的遗传易感性,影响不同的器官和系统。STAT4 最近被确定为 SLE 发展中的易感基因。根据最近的研究,STAT4 与不同人群的 SLE 有关。我们调查了 STAT4 单核苷酸多态性(SNP)是否与伊朗患者 SLE 的易感性和临床特征有关。研究组包括 280 例 SLE 患者和 281 名性别、年龄和种族匹配的伊朗裔健康对照者。使用 TaqMan MGB 等位基因鉴别方法对两个 SNP(rs7574865 和 rs7601754)进行基因分型。我们的结果表明,rs7574865 T 等位基因(比值比(OR)=1.50,95%置信区间(CI)=1.18-1.92,P=0.002)与 SLE 的易感性显著相关。rs7574865TT 基因型(P=0.02,OR=1.94,95%CI=1.74-3.19)和 GT 基因型(P=0.008,OR=1.71,95%CI=1.19-2.45)与伊朗人群中 SLE 的发病风险显著相关。我们得出结论,STAT4 rs7574865 与伊朗人群中 SLE 的易感性有关,该 SNP 可能是 SLE 发病机制中的一个因素。然而,需要进一步研究该基因多态性导致 SLE 的机制。