【摘要】 目的　探讨上海市妇女雌激素受体α(ER α)基因和维生素D受体 (VDR)基因多态性与峰值骨量的关系。方法　对上海市 5 15例无亲缘关系 19～ 40岁汉族健康妇女进行PCR RFLP测定ER α基因PvuⅡ、XbaⅠ多态性和VDR基因ApaⅠ多态性 ,用双能X线吸收法测定骨密度 (BMD)。 结果　本研究人群PP、Pp及pp基因型频率分别为 13 .2 %、49.3 %、3 7.5 % ;XX、Xx及xx基因型频率各为 4.7%、40 .4%、5 4.9% ;AA、Aa及aa基因型频率分别为 5 .8%、41.9%、5 2 .3 %。以上等位基因频率分布均符合Hardy Weinberg定律。协方差方法分析各基因型与BMD值的关系显示 :仅VDR基因ApaⅠ多态性与妇女L1 4BMD值显著相关 (P <0 .0 5 ) ,AA基因型在L1 4BMD值均低于Aa/aa基因型 ,差异有显著性 (P <0 .0 5 )。结论　ER α基因PvuⅡ和XbaⅠ多态性对上海市妇女峰值骨量无潜在影响 ;VDR基因ApaⅠ多态性与上海市妇女腰椎峰值骨量的达到和维持有关 ,而且独立于ER α基因PvuⅡ和XbaⅠ多态性。更多还原

【Abstract】 Objective To investigate the association of estrogen receptor-α (ER-α) and vitamin D receptor (VDR) gene polymorphisms with peak bone mass in Shanghai women. Methods The ER-α PvuⅡ and XbaⅠ genotypes and VDR ApaⅠ genotypes were determined by PCR-RFLP in 515 unrelated healthy women aged 19-40 years of Han nationality in Shanghai. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry. Results Frequencies of ER-α PvuⅡ genotype PP, Pp and pp were 13.2%, 49.3% and 37.5% respectively. Frequencies of ER-α XbaⅠ genotype XX, Xx and xx were 4.7%, 40.4% and 54.9% respectively. Frequencies of VDR ApaⅠ genotype AA, Aa and aa were 5.8%, 41.9% and 52.3% respectively. Hardy-Weinberg equilibrium was evident for both ER-α and VDR gene polymorphisms. No association was found between ER-α PvuⅡ and XbaⅠ genotypes and BMD of various sites in women. Only a significant association was found between VDR ApaⅠ genotype and BMD at L 1-4(P<0.05). Compared with Aa/aa genotype, women with AA genotype had significantly lower BMD at L 1-4(P<0.05). However, no association was observed between VDR ApaⅠ genotype and BMD at any site of proximal femur. When a combined analysis of ER-α PvuⅡ and XbaⅠ and VDR ApaⅠ polymorphisms was carried out, cross-genotyping ApaⅠ and neither PvuⅡ nor XbaⅠ polymorphism was associated with BMD in women. Conclusion ER-α gene PvuⅡ and XbaⅠ polymorphisms do not potentially influence on peak bone mass in Shanghai women. The attainment and maintenance of peak bone mass at lumbar vertebra are associated with VDR gene ApaⅠ polymorphism in Shanghai women but independent of ER-α gene PvuⅡ and XbaⅠ polymorphisms.更多还原