Estrogen Receptor Alpha (ESR1) PvuII and XbaI Gene Polymorphisms in Ischemic Stroke in a Hungarian Population

Background: Ischemic stroke is a multifactorial disorder with genetic and environmental components. The aim of our study was to investigate whether two polymorphisms of the estrogen receptor alpha (ESR1) gene (ESR1 c.454-397T>C and c.454-351A>G) are associated with ischemic stroke in a Caucasian population from Hungary.

Methods: One hundred and ninety-eight patients with ischemic stroke and 180 control subjects were enrolled in this case-control study. Ischemic stroke subtypes were categorized according to the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification as large-artery atherosclerosis, small-artery occlusion, cardioembolism or stroke of other determined etiology. The ESR1 PvuII and XbaI genotypes were determined using the PCR-RFLP method.

Results: There were no significant differences in the genotype, allele and haplotype frequencies of PvuII and XbaI polymorphisms between the group of patients with ischemic stroke and the control group. Furthermore, ESR1 PvuII and XbaI genotypes, alleles and haplotypes were not associated with any subtype of ischemic stroke.

Conclusions: We did not observe an association between ESR1 PvuII and XbaI gene polymorphisms and ischemic stroke or any subtype of ischemic stroke. However, further studies are needed to explore the complex interaction between environmental factors and ESR1 gene polymorphisms in the risk of ischemic stroke, particularly in ethnically different populations.