Prevalence of Xbal Polymorphism of ESR a Gene in Healthy Javanese Menopausal Women

Abstract

Abstract: Polymorphism of estrogen receptor alpha (ESR a) 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 a 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 a gene i.e. Pvull and Xhal. Both are the most widely studied by researchers as a risk factor for many diseases in women. In several countries some studies of the Pvul/ and Xbal defined polymorph isms (ESR a rs2234693 and ESR a rs9340799, respectively) have also been shown to be predictive marker for some disease especiaUy in menopausal women and have also shown the prevalence of Pvull and Xbal polymorphism in healthy menopausal women population. In this study we aimed to evaluate the prevalence of Xhal polymorphism in Javanese menopausal women. Our study has focused on Xbal polymorphism without Pvull based on previous study in .Javanese menopausal women that Xbal has associated with diabetes mellitus. Su!Jjects of our study were 34 consecutive menopausal women fragment length polymorphism (RFLP). The absence of Xhal restriction site was indicated by "XI" and the presence was indicated by "X2". Xbal genotype was distributed as follows: X2X2 8.8% (n=3), X1X2 20.5% (n=7), XIX I 70.6% (n=24). Prevalence of Xbal polymorphism of ESR a in Javanese menopausal women is similar to previously studied in other population.