Mahmoudi Mahdi, Aslani Saeed, Hamzeh Elham, Ziaee Vahid, Poursani Shiva, Nicknam Mohammad Hossein, Rezaei Nima
a Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran (the Islamic Republic of).
b Division of Pediatric Rheumatology , Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran (the Islamic Republic of).
Fetal Pediatr Pathol. 2017 Dec;36(6):423-431. doi: 10.1080/15513815.2017.1367871. Epub 2017 Dec 4.
Juvenile-onset systemic lupus erythematosus is a multigenic autoimmune disorder. Polymorphisms of MECP2 gene have been reported to increase the risk of adult-onset SLE. In this study, we aimed to analyze if MECP2 gene polymorphisms could impress the proneness to JSLE in Iranian population.
Polymorphisms of MECP2 gene were genotyped in 50 Iranian JSLE patients and 426 matched healthy controls employing the real-time PCR allelic discrimination technique.
None of the alleles and genotypes of MECP2 gene SNPs had significantly different distribution between patients and controls. The CTAT haplotype was represented more frequently and significantly in JSLE cases than in controls. A strong linkage disequilibrium was observed among the variants.
Although adult-onset SLE had been associated with MECP2 gene variants, this gene is not associated with disease susceptibility in JSLE patients, implying the involvement of different susceptibility genes in the pathogenesis of SLE and JSLE.
青少年型系统性红斑狼疮是一种多基因自身免疫性疾病。据报道，MECP2基因多态性会增加成人型系统性红斑狼疮的发病风险。在本研究中，我们旨在分析MECP2基因多态性是否会影响伊朗人群患青少年型系统性红斑狼疮的倾向。
采用实时荧光定量PCR等位基因鉴别技术，对50例伊朗青少年型系统性红斑狼疮患者和426例匹配的健康对照者进行MECP2基因多态性基因分型。
MECP2基因单核苷酸多态性的等位基因和基因型在患者和对照者之间的分布均无显著差异。CTAT单倍型在青少年型系统性红斑狼疮患者中的出现频率显著高于对照组。在这些变异之间观察到很强的连锁不平衡。
虽然成人型系统性红斑狼疮与MECP2基因变异有关，但该基因与青少年型系统性红斑狼疮患者的疾病易感性无关，这意味着不同的易感基因参与了系统性红斑狼疮和青少年型系统性红斑狼疮的发病机制。
