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

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

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。

AIM： To investigate the prevalence of vitamin D receptor （VDR） gene polymorphism in Guang- zhou 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.