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Prevalence of XbaI Polymorphism of ESR α Gene in Healthy Javanese Menopausal Women

Conference: Proceeding of International Conference on Women’s Health in Science and Engineering (WiSE 2012)

ABSTRACT Polymorphism of estrogen receptor alpha (ESR α) may cause pleitrophic effect to lipid levels, lipid response to hormone replacement therapy (HRT), myocardial infarction risk, stroke, migraine, bone fracture risk, bone mineral density (BMD). The polymorphism in the ESR α gene have associated with the incidence of breast cancer, menopausal osteoporosis, recurrent abortions, arterial hypertension, changes in serum lipid levels, cardiovascular heart disease (CHD), and diabetes mellitus. Recently there are two types of well-known polymorphisms in the ESR α gene i.e. PvuII and XbaI. Both are the most widely studied by researchers as a risk factor for many diseases in women. In several countries some studies of the PvuII and XbaI defined polymorphisms (ESR α rs2234693 and ESR α rs9340799, respectively) have also been shown to be predictive marker for some diseases especially in menopausal women and have also shown the prevalence of PvuII and XbaI polymorphism in healthy menopausal women population. In this study we aimed to evaluate the prevalence of XbaI polymorphism in Javanese menopausal women. Our study has focused on XbaI polymorphism without PvuII based on previous study in Javanese menopausal women that XbaI has associated with diabetes mellitus. Subjects of our study were 34 consecutive menopausal women. Gene of ESR1 has been analyzed with Restriction Fragment Length Polymorphism (RFLP). The absence of XbaI restriction site was indicated by "X1" and the presence was indicated by "X2". XbaI genotype was distributed as follows: X2X2 8.8% (n=3), X1X2 20.5% (n=7), X1X1 70.6% (n=24). Prevalence of XbaI polymorphism of ESR α in Javanese menopausal women is similar to previously studied in other population.