The ESR1 gene polymorphisms in patients with coronary artery disease in the southeastern Turkish population

Authors: ABDUSSEMET HAZAR, FUAT DİLMEÇ, AYDEMİR KOÇARSLAN, MUSTAFA GÖZ, MEHMET SALİH AYDIN, ABBAS HEVAL DEMİRKOL

Abstract: The objective of this study was to evaluate the prevalence of the estrogen receptor 1 (ESR1) gene variants and their possible association with coronary artery disease (CAD) in Şanlıurfa province. Materials and methods: We used polymerase chain reaction and restriction enzyme digestion to determine the prevalence of the ESR1 gene (NM_001122742.1, GI: 2099): c.454-351 A>G (XbaI A>G) and c.454-397 T>C (PvuII T>C) polymorphisms in 100 healthy individuals and 80 angiographically confirmed CAD patients. Results: The body mass index (28.1 ± 5.4), low-density lipoprotein cholesterol (126.1 ± 42 mg/dL), diabetes (n = 13), and hypertension (n = 39) values of the CAD patients were significantly higher than in the control subjects (26.2 ± 3.9, 106.1 ± 26.3, 2, and 18, respectively) (P < 0.05). No significant differences were observed in the frequencies of both the c.454-351 A>G and c.454-397 T>C genotype of the ESR1 gene in CAD patients compared to healthy individuals (P > 0.05). Conclusion: The ESR1 variants tested in this study were not associated with CAD. Therefore, neither of these 2 variants can be considered as an independent risk factor or a predictor for CAD in the studied Turkish population.

Keywords: Coronary artery disease, estrogen receptor 1 gene, polymorphism, polymerase chain reaction, restriction fragment length polymorphism, single nucleotide polymorphism

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