Abstract

RAUSCHEMBERGER, MB et al. Estrogen Receptor: Polymorphisms of ESR1 and Biochemical Markers of Cardiovascular Risk. Rev. argent. endocrinol. metab. [online]. 2012, vol.49, n.2. ISSN 1851-3034.

In the last few years, the study of the association between genetic markers and clinical or biochemical signs of certain diseases, has been proposed to assess whether genetic determinations would be useful as risk predictors. Cardiovascular disease is a major cause of death in postmenopausal women in the Western world, fact attributed to the decline in circulating estrogen levels. The aim of the present study was to investigate the existence of associations between polymorphisms of the estrogen receptor ESR1 (PvuII and XbaI) and biochemical markers of cardiovascular risk, in a local population healthy childbearing potential and postme-nopausal women. Both populations were classified into subgroups according to the presence of specific genetic markers as follows: 1 (P / p), 2 (p / p), 3 (P / P), A (X / x), B (x / x), C (X / X), where P/ X = no cut site, and p / x = presence of cut site to restriction enzymes PvuII and XbaI respectively. In a peripheral blood sample biochemical markers of lipid profile, hemostasis and inflammation were determined, and comparisons were performed between fertile and postmenopausal women, grouped according to each genotype. Postmeno-pausal women with genotype A showed a significant increase in total cholesterol, LDL-C and triglycerides when compared women of childbearing potential with genotype A. In the subgroup 1, statistical changes in CT, C-LDL were detected. When haplotype analysis was performed, only one biochemical marker exhibited changes. In postmenopausal women positive to 1A haplotype, total cholesterol was slightly increased as compared to 1A haplotype women of childbearing potential. Hemostasis and inflammation markers did not show significant changes between women of childbearing potential and postmenopausal women grouped according to the polymorphism present. The results suggest that genotype A identifies the population of postmenopausal women population with a less favourable lipid profile compared to women of childbearing potential subtype. No financial conflicts of interest exist.

Keywords : Polymorphisms; Menopause; Vascular disease; Estrogen receptor; Lipid profile.

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