Non-association of estrogen receptor genotypes with bone mineral density and bone turnover in Korean pre-, peri-, and postmenopausal women

Estrogen is known to play a critical role in both skeletal maturity and the rate of bone loss. This suggests the possibility that the estrogen recepto r (ER) gene is one of the candidate genes that determines peak bone density and/or bone turnover rate. We investigated two established restriction fra gment length polymorphisms (RFLPs) in intron 1 at the ER gene, represented as PvuII and XbaI. In 598 healthy Korean women aged 20-74 years, we examine d the association of these ER genotypes with bone mineral density (BMD) and bone turnover status. The distribution of the PvuII and XbaI RFLPs was as follows: pp 205 (34.3%), Pp 308 (51.5%), PP 85 (14.2%) and xx 384 (64.2%), Xx 180 (30.1%), XX 34 (5.7%), respectively (where capital letters signify t he absence of, and lower-case letters signify the presence of, the restrict ion site of each RFLP). No significant genotypic differences were found in BMD and bone markers. We grouped the subjects into three categories accordi ng to their menstrual status: 104 premenopausal women with regular menstrua tion, 182 perimenopausal women who had amenorrhea of not less than 3 months and not more than 12 months' duration, and 312 postmenopausal women whose last menstruation was at least 12 months previously. No significant genotyp ic difference in either BMD or bone markers was found in any of these three groups. Furthermore we categorized women in peri- and postmenopause into a high loser group and a normal loser group according to the level of bone r esorption markers. There was no difference in genotypic proportions between the high and normal loser groups. Our data suggest that these ER polymorph isms are not associated with BMD or bone turnover in Korean women.