Saeedeh Salimi1,2, Abbas Mohammadpour-Gharehbagh1,2, Farshid Keshavarzi1,2, Farzaneh Farajian-Mashhadi1,3, Mahdieh Mousavi4, Mahnaz Sandoughi5. 1. Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. 2. Department of Clinical Biochemistry, Zahedan University of Medical Sciences, Zahedan, Iran. 3. Department of Pharmacology, Zahedan University of Medical Sciences, Zahedan, Iran. 4. Department of Biology, Faculty of Science, University of Zabol, Zabol, Iran. 5. Department of Internal Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Abstract
BACKGROUND: Systemic lupus erythematous (SLE) is a multisystem and autoimmune disorder leading to damage of multi-organ systems. The current study aimed to assess the possible association between ERα gene polymorphisms and SLE in a southeast Iranian population. METHODS: The ERα PvuII and XbaI polymorphisms were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method in 170 SLE patients and 186 healthy subjects. RESULTS: There was no association between ERα PvuII and XbaI polymorphisms and SLE susceptibility; however, the combination of the TC/AA and CC/GG genotypes of ESR α PvuII and XbaI polymorphisms were more frequent in SLE patients. The results indicated that TT haplotype of the ERα gene polymorphisms could increase the SLE risk almost 2.4-fold (odds ratio 2.4, 95% CI 1.3-4.3, P = 0.005). The in silico analysis revealed that the ERα PvuII and XbaI single nucleotide polymorphisms occurred in acceptor splicing sites, and these mutations can lead to the increase of Human Splicing Finder score of the mutant alleles. CONCLUSIONS: The ESR α PvuII and XbaI polymorphisms have no association with SLE; however, the combination of the TC/AA and CC/GG genotypes were associated with SLE susceptibility.
BACKGROUND: Systemic lupus erythematous (SLE) is a multisystem and autoimmune disorder leading to damage of multi-organ systems. The current study aimed to assess the possible association between ERα gene polymorphisms and SLE in a southeast Iranian population. METHODS: The ERα PvuII and XbaI polymorphisms were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method in 170 SLEpatients and 186 healthy subjects. RESULTS: There was no association between ERα PvuII and XbaI polymorphisms and SLE susceptibility; however, the combination of the TC/AA and CC/GG genotypes of ESR α PvuII and XbaI polymorphisms were more frequent in SLEpatients. The results indicated that TT haplotype of the ERα gene polymorphisms could increase the SLE risk almost 2.4-fold (odds ratio 2.4, 95% CI 1.3-4.3, P = 0.005). The in silico analysis revealed that the ERα PvuII and XbaI single nucleotide polymorphisms occurred in acceptor splicing sites, and these mutations can lead to the increase of Human Splicing Finder score of the mutant alleles. CONCLUSIONS: The ESR α PvuII and XbaI polymorphisms have no association with SLE; however, the combination of the TC/AA and CC/GG genotypes were associated with SLE susceptibility.