维生素D受体和雌激素受体基因多态性与骨密度关系的研究

The Study of the Correlation between Vitamin D, Estrogen Receptor Gene Polymorphisms and Bone Mineral Density

目的:调查维生素D受体(VDR)和雌激素受体(ER)基因多态性在我国人群中的分布,研究基因多态性与骨密度的关系。方法:采用聚合酶链反应和酶切技术,检测131例健康妇女VDR和ER的基因多态性,同时用双能X线骨密度仪检测其腰椎骨密度。结果:发现VDR基因型分布频率为BB3.1％,Bb8.4％,bb88.5％;ER基因在健康人群的分布频率为PP16.0％,Pp40.4％,pp43.5％;XX1.5％,Xx26.7％,xx71.8％。围绝经期妇女VDR基因型Bb型骨密度分别高于BB和bb型,有极显著性差异(P<0.01)。绝经期妇女腰椎骨密度明显低于围绝经期妇女(P<0.01)。结论:VDR和ER基因型分布频率与西方国家明显不同,VDR基因多态性与围绝经期妇女骨密度有部分相关性,ER基因与骨密度无明显关系。

Objective To investigate the frequency distribution of vitamin D receptor (VDR) and estrogen receptor (ER) genotype in Chinese population, and to evaluate the correlation between VDR, ER gene polymorphisms and bone mineral density (BMD). Methods: Polymerase chain reaction (PCR) and restriction analysis were used to determine VDR and ER genotypes in 131 Chinese women. BMD of L2-4 lumbar spine was measured by dual-energy X-ray absorptiometry (DEXA). Results: The frequency distribution of VDR genotype was BB 3.1% , Bb 8.4% , and bb 88.5% respectively. The frequency distribution of ER genotype was PP 16.0% , Pp40.4%, pp 43.5%, XX 1.5%, Xx26.7%, and xx 71.8% respectively. BMD of Bb genotype was significantly higher than that of BB and bb genotypes in perimenopausal women (P< 0.01). BMD was significantly lower in postmenopausal women than that in perimenopausal women (P<0.01). Conclusion: The frequency distribution of VDR and ER genotype in Chinese women is significantly different from that in western countries' women. There is a correlation between VDR genotype and BMD in perimenopausal woman. The correlation between the ER genotype and BMD is not found.