PvuII polymorphisms of the estrogen receptor alpha and bone mineral density in healthy southern Chinese women

The association between PvuII polymorphisms of the estrogen receptor alpha (ER alpha) gene and total as well as regional bone mineral density (BMD) in healthy Chinese women (n = 182) was determined by polymerase chain reactio n-restriction fragment length polymorphism (PCR-RFLP), where P indicated th e absence and p the presence of PvuII restriction sites. Subjects with PP g enotype had significantly higher BMD at the thoracic spine and ribs (both P < 0.05) when compared with those with Pp and pp genotypes. Although PP gen otype had slightly higher BMD values at the lumbar spine L2-L4 region and h ip by 8% and 7%, respectively, the results failed to reach statistical sign ificance. After adjusting for age, height, weight, and years since menopaus e, PP genotype had higher BMD at the left (P < 0.02) and right (P < 0.05) r ib region but not at the thoracic spine (P = 0.056). Analyzing the premenop ausal subjects alone (n = 64) revealed that subjects with PP genotype had h igher adjusted BMD at the right rib region (P < 0.05). When only the postme nopausal women (n = 118) were analyzed, the adjusted BMD of the PP genotype at the thoracic spine was significantly higher (P < 0.05) than the other t wo groups. In conclusion, estrogen receptor gene has a role in determining bone mass but the clinical impact on its own is probably small.