Objective: To investigate the possible relationship between bone mineral density and polymorphism of the estrogen receptor (ER) gene in Shanghai healthy postmenopausal women.
Methods: 250 unrelated healthy postmenopausal women were selected for bone mineral density (BMD) determination by Dual energy X-ray absorptiometry (DEXA) and polymorphism of estrogen receptor gene analyses by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: Pvu II polymorphisms of ER gene was associated with low Troch BMD (P = 0.0153) while there was no significant relationship between Xba I polymorphism of ER gene and BMD at any of skeletal sites included in the present study, and the combination of Pvu II and Xba I polymorphisms of ER gene was significantly associated with both low Lumbar 2-4 (P = 0.0369) and Troch (P = 0.0384) BMD. Multiple stepwise regression analysis also indicated that two combined polymorphisms were correlated significantly with Lumbar 2-4 BMD (P = 0.0254) while this correlation was not revealed at any other skeletal sites.
Conclusion: There is significant relationship between the polymorphism of ER gene and both Lumbar 2-4 BMD and Troch BMD. It is significant to explore the pathogenesis of osteoporosis and to prevent the development of osteoprosis by use of molecular genetics.