[Study on the association between estrogen receptor-alpha gene polymorphisms and pubertal skeletal developmental...

To investigate the association between estrogen receptor-alpha (ER-alpha) gene polymorphisms, pubertal bone mineral density (BMD) and bone turnover markers, to better understand the frequencies of ER-a genotypes.

The ER-alpha Pvu II and Xba I genotypes were determined by PCR-RFLP in 158 healthy adolescent girls (12-14 years old) while BMD was measured by dual-energy X-ray absorptiometry (DEXA). The bone turnover markers (BAP, BGP, TRACP) and calcium adjust hormone (25-OH-VitD, E2) were detected by ELISA. The relationship among BMD, bone turnover markers, and polymorphisms of ER-a were examined.

(1) Although the bone turnover markers had a trend in ER-alpha Pvu II genotypes as pp>PP>Pp but no significant difference was found (P > 0.05). There were no significant differences found among Xba I genotypes and between Px haplotype and non-Px haplotype. (2) No association was noticed between ER-a genotype and BMD at any site of the forearm and the whole body. Compared with non-Px haplotype, the Px haplotype had lower BMD, but there was no significant difference noticed (P > 0.05).

ER-alpha gene Pvu II and Xba I polymorphism seemed not potentially influence on BMD and bone turnover markers in the pubertal girls in Beijing, suggesting that it might not be the major genetic factor regarding this population.