Correlation Between Estrogen Receptor [alpha] Gene Polymorphism with Serum Estradiol Levels and Known Risk Factors in Patients with Myocardial Infarction

• Published in: Indian journal of clinical biochemistry Vol. 38; no. 4; p. 495
• Main Authors: Aparna, R. R, Rajarajeswari, D, Prasad, M, Krishna, T. Sharmila, Ramalingam, K, Viswakumar, R, Fathima, Nusrath
• Format: Journal Article
• Language: English
• Published: Springer 01.10.2023
• Subjects: Enzymes; Estradiol; Ethylenediaminetetraacetic acid; Genes; Genetic aspects; Genetic polymorphisms; Health aspects; Heart attack; Mortality; Phenols; Risk factors
• ISSN: 0970-1915
• DOI: 10.1007/s12291-022-01104-1

Myocardial infarction (MI) remains the most common cause of cardiac failure and continuous increasing rate of morbidity and mortality. We aimed to investigate the association of estrogen receptor-[alpha] (ESR1) gene polymorphism c454-397T>C with serum estradiol levels and dyslipidemia in 220 patients with MI in the age range of 35-70 years of both the genders. Genotyping study was performed through PCR-RFLP method using PvuII restriction enzyme. Serum estradiol level was estimated using the Access Sensitive Estradiol assay kit. Men patients had 43.2% increased risk for TC heterozygote in co-dominant (OR 10.66) and over-dominant models (OR 8.30), while women patients had 50% increased risk in co-dominant (OR 16.57) and over-dominant (OR 14.04) models. Variant C allele showed 25% increased risk of MI for in men (OR 2.24; CI 1.49-3.36; p = 0.0001), and 24% increased risk in women (OR 3.35; CI 1.95-5.76; p = 0.0001). Men patients had significantly increased serum estradiol levels compared to controls (25.28 ± 5.80 vs 17.04 ± 2.01; p < 0.0001). Significant difference was observed in estradiol levels between men and women patients (25.28 ± 5.80 vs 17.56 ± 3.32; p < 0.0001). Furthermore, significantly increased estradiol level was found in men patients compared to women for TT (25.46 ± 5.91 vs 16.71 ± 4.46; p < 0.0001), and TC genotypes (25.47 ± 5.91 vs 17.70 ± 2.86; p < 0.0001). Significantly increased HDL levels were observed in men patients with TC (43.10 ± 8.18 vs 38.91 ± 7.84; p < 0.01) and CC (47.16 ± 8.09 vs 38.91 ± 7.84; p < 0.001) genotypes compared to TT genotype. These findings suggest that TC heterozygote plays an important role as a genetic risk factor during MI pathogenesis in the South Indian population.