Introduction: 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.
Material and methods: Polymorphisms of MECP2 gene were genotyped in 50 Iranian JSLE patients and 426 matched healthy controls employing the real-time PCR allelic discrimination technique.
Results: 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.
Conclusions: 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.
Keywords: JSLE SNP; MECP2; SLE.