中文摘要：

目的探讨雌激素受体（ER）基因多态性在陕西关中地区汉族绝经后妇女中的分布及其与骨密度的相关性。方法通过对1200例陕西关中地区汉族绝经1—4年、年龄48—56（平均53）岁的妇。女测定其不同部位的骨密度（BMD）值，并对每个样本测其血钙、血磷、甲状旁腺激素（PTH）及尿Ⅰ型胶原交联N末端肽（NTX）水平，同时检测雌激素受体基因P—Ⅱ、XbaⅠ位点的多态性，方差法分析ER基因多态性与骨密度的相关性。结果雌激素受体基因PvuⅡ酶切多态性位点的三种基因型间在股骨颈和Ward三角的BMD存在着显著性差异（P〈0．001）。雌激素受体基因XbaⅠ酶切多态性与各检测指标无显著性差异（P〉0．05）。结论雌激素受体基因PvuⅡ多态性可能对陕西关中地区绝经后妇女股骨颈和ward三角BMD有一定的影响，雌激素受体基因XbaⅠ基因型与骨密度间无明显相关性。

英文摘要：

Objective To investigate the relationship between polymorphism of the estrogen receptor （ER） gene and bone mineral density （BMD）, and bone metabolism in the healthy postmenopausal women from Guanzhong area, Shaanxi Province. Methods In 1 200 postmenopausal healthy Han women, aged 48-56 years （average 53 years）, BMD of lumbar spine and femoral neck, Ward＇s and trochanteric areas were measured by dual energy X-ray absorptiometry. Biochemical indexes （serum Ca, serum P, ALP, PTH, CT, urine NTX） were measured and Pvu Ⅱ and XbaⅠ restriction fragment length polymorphism （RFLP） of ER were analysed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. The relationship between polymorphism of the ER gene and BMD, and bone metabolism were evaluate by ANCONA. The RFLP was presented as Pp （Pvu Ⅱ ） and Xx （XbaⅠ ）. Results Both the femoral neck and Ward＇s triangle BMD values in women with the p carrier genotype were significantly （P 〈 0. 001） higher than those in women with the PP genotype, but others had no significant difference. No significant effect of the XbaⅠ genotype on BMD and biochemical indexes was found at any site （P 〉 0. 05）. Conclusion Our results suggest that the Pvu Ⅱ polymorphism and the ER- α haplotype may be associated with BMD at several femoral neck and Ward＇s triangle sites in postmenopausal women of Guanzhong area, Shaanxi Province.