Association between ERα polymorphisms and systemic lupus erythematosus: susceptibility and in silico analysis
Copyright policy )Association between ERα polymorphisms and systemic lupus erythematosus: susceptibility and in silico analysis
AbstractBackgroundSystemic 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.MethodsThe 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.ResultsThere 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.ConclusionsThe 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.
- Zahedan University of Medical Sciences Iran (Islamic Republic of)
- Zabol University Iran (Islamic Republic of)
Adult, Male, Heterozygote, Chi-Square Distribution, Models, Genetic, Homozygote, Estrogen Receptor alpha, Computational Biology, Iran, Logistic Models, Gene Frequency, Haplotypes, Case-Control Studies, Odds Ratio, Humans, Lupus Erythematosus, Systemic, Computer Simulation, Female, Genetic Predisposition to Disease, Genetic Association Studies
Adult, Male, Heterozygote, Chi-Square Distribution, Models, Genetic, Homozygote, Estrogen Receptor alpha, Computational Biology, Iran, Logistic Models, Gene Frequency, Haplotypes, Case-Control Studies, Odds Ratio, Humans, Lupus Erythematosus, Systemic, Computer Simulation, Female, Genetic Predisposition to Disease, Genetic Association Studies
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