Influence of estrogen receptor-a gene polymorphism in systemic lupus erythematosus patients

Abstract EN

Objective : to evaluate the genetic influence of Pvu II and Xba I polymorphism of estrogen receptor alpha in systemic lupus erythematous patients and determine its association with various clinical manifestations, disease activity and severity in those patients.

Subjects : the study was performed on 25 SLE patients and 10 healthy individual stratified for age and sex, no individual was excluded as the controls were only used to compare genotype and allele frequencies, all the subjects were female to minimize the effect of sex variable.

Methodology : full history taking with stress on age at onset, complete clinical examination and assessment of disease activity by SLEDAI, assessment of severity or organ damage with SLICC damage index.

Plain-x ray to both hands, chest x ray.

Laboratory investigations for the detection of ANA, ds-DNA, anti-sm, C3c, C4 and estimation of the two polymorphism of estrogen receptor alpha gene Pvu II and Xba I.

Results : No difference in genotype or combined genotypes distribution between SLE and control subjects.

Significant association was found between malar rash, oral ulcer, arthritis, older age at disease onset and Pvu II C genotype.

While photosensitivity was significantly associated with Xba I G allele which was not present in patients with serositis which showed significant association with Xba I A allele.

Also, by using SLICC damage index we found significant association between Xba I AA and Pvu II TT genotypes with SLE patients with cognitive impairment or angina or myocardial infarction.

Conclusion : Pvu II, Xba I polymorphism may play a role in the pathogenesis of SLE as well as certain disease clinical pattern as the alleles of OR? polymorphism Pvu II C and Xba I G are associated with older age at disease onset and with skin involvement and arthritis which considered as a manifestation of less severe disease, while the alleles, Pvu II T and Xba I A are associated with sororities, neuropsychiatric manifestations especially the cognitive impairment and with angina, myocardial infarction detected from SLICC damage index.