分子生物标志物与诊断杂志

Estrogen Receptor Genes Polymorphisms and Susceptibility to Juvenile and Adult Onset Systemic Lupus Erythematous in Egyptian Patients

Abstract

Rania Hassan Khalifa, Abeer Nabil Mokbel, Mohamed Abdallah Kamel, Engy Mohammed and Hend Hamed Tamim

Abstract

Background:Estrogens, acting through their cellular receptors namely alpha and beta, have a role in the development of systemic lupus erythematosus (SLE).

Objectives: To investigate whether polymorphisms of ESR1 and ESR2 genes is related to the susceptibility of juvenile (jSLE) and adult Systemic lupus erythematosus (aSLE) and to detect their association with clinical and laboratory characteristics of the disease.

Methods: Genomic DNA was extracted from 32 adult onset SLE (aSLE), 33 juvenile onset SLE (jSLE) and 60 age and gender matched controls. Genotyping of ESR1 and ESR2 was done using the restriction fragment length polymorphism (RFLP) and tetra primer ARM-PCR methods respectively.

Results: There was a statistically significant difference in the genetic polymorphisms of ESR2 between the two studied groups (aSLE, jSLE) and the control group as regards the homomutant AA genotype (OR:0.058, p value: 0.000) and the A allele(OR: 0.195, p value:0.007) in case of aSLE, and in homomutant AA genotype (OR:0.269, p value:0.017) and the A allele (OR: 0.397, p value: 0.003) in case of jSLE but the study could not find any statistically significant difference in the genetic polymorphisms of ESR1 between the control and the two groups.

Conclusion: This study revealed that ESR1 genetic polymorphism is not genetic risk or protective factor for neither aSLE nor jSLE susceptibility, but ESR2 genetic polymorphism is reported as protective factor for aSLE and jSLE among our studied population. Certain alleles are associated with certain clinical and laboratory parameters.