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Association between ER α polymorphisms and systemic lupus erythematosus: susceptibility and in silico analysis
Author(s) -
Salimi Saeedeh,
MohammadpourGharehbagh Abbas,
Keshavarzi Farshid,
FarajianMashhadi Farzaneh,
Mousavi Mahdieh,
Sandoughi Mahnaz
Publication year - 2018
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.13230
Subject(s) - haplotype , genotype , single nucleotide polymorphism , allele , odds ratio , restriction fragment length polymorphism , lupus erythematosus , medicine , immunology , genetics , biology , gene , antibody
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 ER α gene polymorphisms and SLE in a southeast Iranian population. Methods The ER α Pvu II 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 ER α Pvu II and XbaI polymorphisms and SLE susceptibility; however, the combination of the TC / AA and CC / GG genotypes of ESR α Pvu II and XbaI polymorphisms were more frequent in SLE patients. The results indicated that TT haplotype of the ER α 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 α Pvu II 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 Pvu II and XbaI polymorphisms have no association with SLE ; however, the combination of the TC / AA and CC / GG genotypes were associated with SLE susceptibility.