Effects of Estrogen Receptor Polymorphisms on Bone Markers and Serum Lipid Levels / 대한진단검사의학회지

ABSTRACT

BACKGROUND: In post-menopausal women, osteoporosis and cardiovascular diseases which are partly due to estrogen deficiency, occur more common than in pre-menopause women. Estrogen action is supposed to be mediated by an estrogen receptor (ER) and two polymorphisms of the ER gene in particular, Pvu II and Xba I, have been described for several years for genetic association studies. Authors have investigated the frequencies and patterns of the ER gene polymorphisms and their association with bone markers and lipid levels. METHODS: For 121 women who visited the health promotion center of Kyungpook National University Hospital, the ER gene polymorphisms were determined by the Pvu II and Xba I restriction enzymes following polymerase chain reaction. RESULTS: The distributions of ER Pvu II and Xba I restriction fragment length polymorphisms were as follows PP 15.7%, Pp 47.9%, pp 36.4% and XX 5.8%, Xx 31.4%, xx 62.8%, respectively. And in a combination of two polymorphisms, ppxx was the most common, followed by PpXx, Ppxx, PPXx, PPXX and PPxx in that order. No significant genotypic differences were found in bone mineral density, bone markers and menopausal status. LDL cholesterol and triglyceride levels were significantly different by genotypes in premenopausal women (P<0.05). CONCLUSIONS: The results suggest that ER polymorphisms might be associated with LDL cholesterol and triglyceride levels. Further evaluation in a larger population would be helpful to determine the effects of ER polymorphisms on lipid metabolism and therapeutic trial for cardiovascular diseases in women.