Associations of ESR1 and ESR2 gene polymorphisms with metabolic syndrome and its components in postmenopausal women

Objectives: Metabolic syndrome (MS) affects a quarter of Polish people and is associated with diabetes mellitus type 2 and ischemic heart disease. The prevalence of MS in postmenopausal women can be increased by the lack of protective effects of oestrogens. In the near future, because of the general increase in life expectancy, the number of postmenopausal women will rise substantially. Therefore, investigating both the environmental and the genetic factors predisposing to MS may have a great impact on women's health. The aim of this study was to determine whether particular oestrogen receptor (ESR) gene polymorphisms can predispose to the development of MS in women after menopause. Study design: The sample consisted of 147 postmenopausal women. In addition to collecting medical history and analyzing body composition using the TANITA scale, patient's waist size, blood pressure, serum lipids, glucose, insulin, C-reactive protein and adiponectin were measured. The analysis of ESR gene polymorphisms was performed using the Sequenom MassARRAY platform. Results: Three out of ten analyzed polymorphisms in the ESR1 gene (rs2234693, rs6902771, rs7774230) and one out of eight analyzed polymorphisms in the ESR2 gene (rs3020449) were associated with MS. The ESR1 rs2234693, rs6902771 and rs7774230 polymorphisms were associated with serum concentrations of high density lipoproteins. The ESR2 rs3020449 polymorphism was associated with serum concentrations of total cholesterol and low-density lipoprotein. Four ESR1 polymorphisms (rs1709183, rs2234693, rs6902771, rs7774230) were associated with total fat tissue content. Conclusions: Bearing the particular alleles at the ESR gene polymorphisms may impact the development of MS and some of the ESR polymorphisms may influence serum cholesterol concentrations in women after menopause.