Genetic Polymorphisms in theESR1Gene and Cerebral Infarction Risk: A Meta-Analysis

Abstract

A number of studies have documented that estrogen receptor α (ESR1) may play an important role in the development and progression of cerebral infarction, but many existing studies have yielded inconclusive results. This meta-analysis was performed to evaluate the relationships between ESR1 genetic polymorphisms and cerebral infarction risk. The PubMed, CISCOM, CINAHL, Web of Science, Google Scholar, EBSCO, Cochrane Library, and CBM databases were searched for relevant articles published before October 1, 2013, without any language restrictions. Meta-analysis was conducted using the STATA 12.0 software. Seven case-control studies were included with a total of 1471 patients with cerebral infarction and 4688 healthy control subjects. Two common single-nucleotide polymorphisms (SNPs) in the ESR1 gene (rs2234693 T>C and rs9340799 A>G) were assessed. Our meta-analysis results revealed that ESR1 genetic polymorphisms might increase the risk of cerebral infarction. Subgroup analysis by SNP type indicated that both rs2234693 and rs9340799 polymorphisms in the ESR1 gene were strongly associated with an increased risk of cerebral infarction. Further subgroup analysis by ethnicity showed significant associations between ESR1 genetic polymorphisms and increased risk of cerebral infarction among both Asians and Caucasians. In the stratified subgroup analysis by gender, the results suggested that ESR1 genetic polymorphisms were associated with an increased risk of cerebral infarction in the female population. However, there were no statistically significant associations between ESR1 genetic polymorphisms and cerebral infarction risk in the male population. Meta-regression analyses also confirmed that gender might be a main source of heterogeneity. Our findings indicate that ESR1 genetic polymorphisms may contribute to the development of cerebral infarction, especially in the female population.

Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD)

“…The female reproductive hormone estrogen is also well known to affect cardiovascular functions, such as maintenance of lipid profile, anti-atherosclerotic and anti-inflammatory action, increasing vasodilation, enhancing HDL levels, attenuation of cardiac cell apoptosis [ 3 , 4 ] and modulation of insulin secretion [ 5 ]. The hormone binds with a ligand activated transcription factor, estrogen receptor alpha (ERα) encoded by ESR1 gene and influences several physiological and cellular processes.…”

ESR1 gene polymorphisms PvuII (rs2234693T>C) and XbaI (rs9340799A>G) may not be directly correlated with cardiovascular disease risk

“…ESR1 is mainly expressed in macrophages, endothelial cells, and vascular smooth muscle cells, and it plays an important role in vascular wall physiology and function (Gao et al, 2014). The ESR1 gene, spanning approximately 25 kb, is located on chromosome 6q21 and consists of 16 exons (Drayna et al, 1987).…”

Uncovering the Mechanism of Chuanhong Stroke Capsule in the Treatment of Stroke Based on Network Pharmacology and Molecular Docking Technology

“…Many neuroprotective agents can enhance Akt activity and protect brain injury, indicating that AKT is the main mechanism of cell repair after injury 58 . Gao’s findings have indicated that ESR1 genetic polymorphisms may contribute to the development of cerebral infarction, especially in the female population 59 ]. A recent study found that stroke was significantly associated with ESR1 rs2234693 polymorphism, especially ischemic stroke 60 .…”