广州地区绝经后妇女维生素D受体基因多态性与骨密度关系的研究

目的：了解广州地区绝经后妇女维生素D受体基因多态性的分布，并进一步研究其与骨密度的关系。 方法：应用聚合酶链反应-限制性片段长度多态性（PCR-RFCP）等生物学技术检测203例绝经后广州地区妇女维生素D受体(VDR)基因型，同时用双能X线骨密度测量仪检测腰椎、股骨颈、瓦氏三角、大转子处骨密度（BMD）。 结果：203例受试对象中，VDR基因型分别为BB型17例（占8.3%）、Bb型60例（占29.6%），bb型126例（占62.1%）， b等位基因频率为76.85%、B等位基因频率为23.05%，基因型分布符合Hardy-Weinberg定律。分析其基因型与骨密度的关系显示：只有bb与Bb、BB基因型在腰椎骨密度存在差异（P<0.05）、Bb与BB的腰椎BMD无差异（P>0.05），其余部位3种基因型骨密度无差异（P>0.05）。 结论： VDR基因型与BMD间存在着一定关联，但尚不能作为预测广州绝经后妇女发生骨质疏松危险性的遗传标志。

Relationship between bone mineral density and polymorphism of vitamin D receptor gene in postmenopausal women in Guangzhou

AIM: To investigate the prevalence of vitamin D receptor (VDR) gene polymorphism in Guangzhou postmenopausal women and to study the relationship between bone mineral density (BMD) and VDR gene polymorphism.METHODS: The genotype of VDR gene of 203 postmenopausal women in Guangzhou was detected by polymerase chain reaction-restriction fragment length polymorphism. BMD of lumbar spine, femoral neck, troch and Ward's triangle were measured by dual-energy X-ray absorptiometry. RESULTS: The distribution of VDR in 203 subjects was BB genotype 17(8.3%), Bb 60(29.6%), bb(62.1%), respectively. The B allelic gene frequencies reached 23.05%. The distribution followed the Hardy-Weinberg equilibrium. The difference was found in lumbar spine BMD between bb and the other two genotypes (P<0.05), but no significant difference between Bb and BB genotype (P>0.05). There was no significant difference in BMD of the other region among three genotypes (P>0.05). CONCLUSION: Genotype of VDR is related to BMD, but there is no enough evidence to support genotype of VDR as a genetic marker in predicting the risk of developing osteoporosis in Guangzhou postmenopausal women.