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  • Title: [Association of Xba I, Pvu II, and Bst U I polymorphisms of estrogen receptor-alpha gene with bone mass in men].
    Author: Zhang ZL, Qin YJ, He JW, Huang QR, Hu YQ, Li M, Liu YJ, Zhang H.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):447-9. PubMed ID: 16086289.
    Abstract:
    OBJECTIVE: To investigate the association of polymorphism in estrogen receptor-alpha (ER-alpha ) gene with bone mineral density(BMD) in men. METHODS: The ER-alpha Xba I, Pvu II and Bst UI genotypes were determined by PCR-restriction fragment length polymorphism (RFLP) in 388 unrelated healthy men who were 46-80 years old and were of Han nationalities in Shanghai city. Bone mineral densities (BMD, g/cm(2)) at lumbar spines 1-4 (L(1-4)) and at any sites of proximal femur, including femoral neck (Neck), trochanter (Troch) and Ward's triangle (Ward's) were measured by duel-energy X-ray absorptiometry. RESULTS: The frequencies distribution of Xba I and Pvu II alleles and genotypes in this cohort all followed the Hardy-Weinberg equilibrium. No Bst UI polymorphic site in ER-alpha gene was found in total samples. All subjects were of BB genotype. No significant association was found between Xba I genotype and BMD at any skeleton sites. The significant association was found between Pvu II genotype and BMD at L(1-4) and Ward's triangle site (P< 0.05). Compared against men with PP and pp genotype, men with Pp genotype had significantly higher mean BMD at L(1-4) and Ward's triangle site (P< 0.05). CONCLUSION: This study suggests that Bst UI polymorphism in ER-alpha gene may be absent or rare in Chinese Han population. Pvu II polymorphism possibly influences the loss of trabecular bone mass in old men.
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