title: 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.
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Samira
authors.initials: S
authors.lastname: Alesaeidi
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Jafar
authors.initials: J
authors.lastname: Karami
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. mahmoudim@tums.ac.ir.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Mahmoudi
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Akbarian
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shiva
authors.initials: S
authors.lastname: Poursani
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Amirzadeh
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Nazgol-Sadat
authors.initials: NS
authors.lastname: Haddadi
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Elahe
authors.initials: E
authors.lastname: Saffari
authors.affiliation: Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. jamshida@tums.ac.ir.
authors.forename: Ahmad Reza
authors.initials: AR
authors.lastname: Jamshidi
mesh_terms: D000328:Adult; D018912:Arabs / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: MCEP2; iranian population; polymorphism; systemic lupus erythematosus (SLE)