Association between ER polymorphisms and systemic lupus erythematosus: susceptibility and in silico analysis

BackgroundSystemic 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 ER gene polymorphisms and SLE in a southeast Iranian population. MethodsThe ER 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 ER PvuII and XbaI polymorphisms and SLE susceptibility; however, the combination of the TC/AA and CC/GG genotypes of ESR PvuII and XbaI polymorphisms were more frequent in SLE patients. The results indicated that TT haplotype of the ER 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 ER 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 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.