Alesaeidi Samira, Karami Jafar, Mahmoudi Mahdi, Akbarian Mahmoud, Poursani Shiva, Amirzadeh Azadeh, Haddadi Nazgol-Sadat, Saffari Elahe, Jamshidi Ahmad Reza
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Inflammation. 2015 Dec;38(6):2185-90. doi: 10.1007/s10753-015-0201-6.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease which involves many organs and presents with various symptoms. It has been shown that genetic and environmental factors play a major role in this disease and may affect the onset, activity, damage, and mortality of the disease. According to recent studies, methyl-CpG-binding protein 2 (MECP2) has been associated with SLE in various populations. Herein, we studied MECP2 polymorphism in Iranian lupus patients and controls. The study included a total of 884 samples of Iranian ancestry (492 independent SLE patients and 392 unrelated healthy controls). Healthy controls were gender-, ethnic-, and age-matched with the patients. Patient and control samples were genotyped for rs1734787, rs1734791, rs1734792, and rs17435 by applying the Allelic Discrimination Real-Time PCR System. Our results showed a significant association between rs1734787 and rs1734791 SNPs and the risk of SLE in the Iranian population (p = 0.028, p = 0.028), but did not show any significant association with rs1734792 and rs17435 SNPs (p = 075, p = 0.75). The rs1734787 C and the rs1734791 T allele frequencies in the patients were significantly higher than the control group (p = 0.014, p = 0.012). In addition, a significant CTAT haplotype frequency was observed in cases with SLE (p = 0.012), and a significant AAAT haplotype frequency was observed in the control group (p = 0.0003). However, there was no significant association between genotype frequencies and SLE patients. Also, there was no significant association between these SNPs and clinical features. The result of this study suggests that polymorphism in the MECP2 locus is associated with the susceptibility of Iranian SLE patients.
系统性红斑狼疮(SLE)是一种慢性自身免疫性疾病,累及多个器官,症状多样。研究表明,遗传和环境因素在该疾病中起主要作用,可能影响疾病的发病、活动、损害及死亡率。根据最近的研究,甲基化CpG结合蛋白2(MECP2)在不同人群中均与SLE有关。在此,我们研究了伊朗狼疮患者和对照组中MECP2的多态性。该研究共纳入了884份具有伊朗血统的样本(492例独立的SLE患者和392名无血缘关系的健康对照)。健康对照在性别、种族和年龄上与患者匹配。通过应用等位基因鉴别实时PCR系统对患者和对照样本进行rs1734787、rs1734791、rs1734792和rs17435基因分型。我们的结果显示,rs1734787和rs1734791单核苷酸多态性(SNP)与伊朗人群中SLE的风险显著相关(p = 0.028,p = 0.028),但与rs1734792和rs17435 SNP未显示出任何显著相关性(p = 0.75,p = 0.75)。患者中rs1734787的C等位基因频率和rs1734791的T等位基因频率显著高于对照组(p = 0.014,p = 0.012)。此外,在SLE患者中观察到显著的CTAT单倍型频率(p = 0.012),在对照组中观察到显著的AAAT单倍型频率(p = 0.0003)。然而,基因型频率与SLE患者之间无显著相关性。这些SNP与临床特征之间也无显著相关性。本研究结果表明,MECP2基因座的多态性与伊朗SLE患者的易感性相关。