中文摘要：

目的 研究雌激素受体基因PvuⅡ和XbaⅠ多态性与骨密度的关系。方法 通过聚合酶链反应-限制性片段长度多态性方法对528名居民ER基因的PvuⅡ和XbaⅠ多态性进行基因分型，并分析各种基因型与腰椎L2-4、股骨颈和前臂等部位骨密度的关系。结果 绝经后妇女ER基因的XbaⅠ多态性“XX”型的股骨颈骨密度最低（P〈0．05），腰椎L2-4和前臂的骨密度虽然“XX”型倾向于最低，但没有达到显著性水平。Stepwise线性回归分析表明年龄、BMI和XbaⅠ多态性是股骨颈骨密度的影响因素（P〈0．001）。而PvuⅡ多态性在腰椎L2-4、股骨颈和前臂骨密度无显著性差异。绝经前妇女PvuⅡ多态性仅在股骨颈骨密度上有差异，“PP”型的骨密度最高（P〈0．05），而XbaⅠ多态性不同基因型之间腰椎L2-4、股骨颈和前臂骨密度无显著性差异。男性ER基因的XbaⅠ多态性“XX”型的腰椎L2-4、股骨颈和前臂骨密度均倾向于最低，但由于例数较少没有达到显著性水平。结论 绝经后妇女“XX”型是股骨颈低骨量的危险因素．绝经前妇女“PP”型是骨量的保护因素。

英文摘要：

Objective To elucidate the effect of estrogen receptor （ER） gene on postmenopausal osteoporosis. Methods Totally 61 premenopausal women, 423 postmenopausal and 44 males were enrolled in this study, The Pvu Ⅱ and Xbal polymorphism were genotyped by polymerase chain reaction -restriction fragment length polymorphisisms, The bone mineral density （BMD） was measured by bone densitometry. Results For postmenopausal women with the XX genotype the BMD of femoral neck was lower compared with ones with Xx or XX genotype （ P 〈 0. 05 ） , and the women with XX genotype tended to have the lowest BMD of lumber vertebrae and forearm bone, but the difference was statistically significant. The stepwise linear regression analysis showed that age, bone mass index and Xbal polymorphism were dependent factors for BMD of femoral neck （ P 〈 0. 001 ）. The BMD of all parts do not have any difference among the different genotypes of the Pvu Ⅱ polymorphism. Conclusion XX genotype is a dangerous factor for postmenopausal women to have a low bone mass of femoral neck, and PP genotype is a beneficial factor for premenopausal women to have a high bone mass.