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Subject Area

Cardiology

Article Type

Original Study

Abstract

Objectives To evaluate the association between estrogen receptor 2 gene (rs4986938) singlenucleotide polymorphism and the incidence of premature coronary artery disease. Background Coronary artery disease (CAD) is a leading cause of cardiovascular mortality worldwide. While atherosclerosis is the primary mechanism, CAD's pathogenesis is influenced by genetic, environmental, and hormonal factors. Estrogen protects against cardiovascular disease through roles in angiogenesis, fibrosis, vascular function, and oxidative stress regulation mediated through estrogen receptors alpha (ERα) and beta (ERβ). Patients and Methods 100 patients under 65 years for women and 55 years for men were enrolled in this case-control study at Menoufia University Hospital, Egypt, referred for elective coronary angiography. They were genotyped for the ER2 gene (rs4986938) by allelic discrimination real-time PCR, and serum estrogen levels were measured by ELISA. SYNTAX-I score was calculated for CAD patients. Results 100 patients (55% males) were included; 67 had CAD (62.7% males) and 33 had normal coronaries (39.4% males). AG genotype was higher in males with CAD (p < 0.02). In females with CAD, AA genotype was more frequent (p < 0.01), while normal females had more GG genotype (p = 0.002). Similarly, Normal males also had higher GG distribution (p < 0.042). Conclusions We found that ER2 (rs4986938) gene polymorphism shows significant association with CAD risk with AG variant in males and AA variant in females associated with increased CAD risk, whereas GG variant seems to be protective. These results suggest that rs4986938 could be a potential biomarker or therapeutic target.

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