Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus

Abstract

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.

The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus

“…We noticed that the below mentioned polymorphisms like rs2075596 G/A, rs1734787 C/A, rs17435 A/T and rs2239464 G/A within MECP2 gene are more widespread in SLE patients than in healthy controls. These observations are consistent with those made by Alesaeidi et al [33] in Iranian population, Webb et al [7] in European, Sawalha et al [5] in Korean and also by Kaufman et al [8] in four different populations. Bentham et al revealed in his GWAS analysis that MECP2 rs1734787 is an appropriate SLE risk factor for people of European ancestry [45].…”

“…There is little research in the literature specific MECP2 polymorphisms with SLE activity or severity. Alesaidi et al [33] demonstrated no significant association between rs1734791, rs1734787 in MECP2 and clinical features. Doudar et al [34] also did not detect significant relationship between rs1734791 in MECP2 and disease severity or activity.…”

Systemic lupus erythematosus: genetic variants in Xq28 region

“…In contrast to our results, the T allele of the rs1734791 SNP was identified as a lupus risk allele in two other studies. One of them was conducted by Alesaeidi et al [13] on the Iranian population; however they also reported no significant association between the genotype frequency of this SNP and the risk of SLE and no correlation of this SNP with clinical manifestations of SLE…”

“…Single nucleotide polymorphisms (SNPs) in MECP2 and IRAK1 genes have been independently associated with risk of SLE in Asian and European populations [8, 11–13]. However, similar studies in the Egyptian population are not available yet.…”

Genetic and molecular biology of systemic lupus erythematosus among Iranian patients: an overview

“…It has been reported that there were significant correlations between rs1734787 and rs1734791 polymorphisms of MECP2 and SLE progression among Iranian patients in which the C allele of rs1734787 and T allele of rs1734791 polymorphisms increased the SLE risk. Moreover, there were significant frequencies of CTAT and AAAT haplotypes in cases and controls, respectively [76].…”