维生素D受体等位基因多态性与骨密度相关性分析

An analysis of the correlation between vitamin D receptor gene polymorphisms and bone mineral density

目的调查维生素Ｄ受体（ｖｉｔａｍｉｎ Ｄ ｒｅｃｅｐｔｏｒ， ＶＤＲ）基因多态性在我国人群中的分布，分析 ＶＤＲ基因型与骨密度的关系。方法采用聚合酶链反应（ｐｏｌｙｍｅｒａｓｅ ｃｈａｉｎ ｒｅａｃｔｉｏｎ， ＰＣＲ）和限制性酶切技术，检测北京地区１００例围绝经期与４８例绝经期妇女维生素Ｄ受体基因多态性，同时用双能Ｘ线骨密度仪检测腰椎骨密度。结果发现ＶＤＲ基因型分布频率为ＢＢ，２．７％；Ｂｂ，８．１％；ｂｂ，８９． ２％。围绝经期妇女中腰椎骨密度值： ＢＢ基因型为（１． １２３ ± ０． １０５） ｇ／ｃｍ~２， Ｂｂ基因型为（ １． ２９０ ±０． １４１） ｇ／ｃｍ~２，ｂｂ基因型为（１．１８５ ±０． １３０） ｇ／ｃｍ~２。绝经期妇女腰椎骨密度（０． ８２２ ±０． １１８） ｇ／ｃｍ~２，明显低于围绝经期妇女（１． １９３±０． １３４） ｇ／ｃｍ~２（Ｐ＜０.０１）。绝经期妇女中骨质疏松发生率为 ３４％。结论中国北京地区这部分绝经期和围绝经期妇女ＶＤＲ基因型分布频率与某些西方国家人群分布不同，她们ＶＤＲ基因型与骨密度无明显相关性。

To investigate the frequency distribution of vitamin D receptor(VDR) genotype in Chinese population and evaluate the correlation between VDR gene polymorphisms and bone mineral density(BMD). Methods Polymerase chain reaction (PCR) and restriction analysis were used to determine VDR genotypes in 148 Chinese women. Their L_2－4 lumbar spine BMD was measured by dual - energy X - ray absorptiometry (DEXA). Results The frequency distribution of the VDR genotype was: BB, 2. 7%; Bb, 8. 1%; bb, 89. 2%. The BMD in perimenopasal women of different genotypes were (1. 123 ± 0. 105 ) g/cm^2 (BB), (1. 290 ±0. 141 ) g/cm^2 (Bb) and (1. 185 ±0. 130) g/cm^2 (bb) respectively. The BMD was significantly lower in postmenopausal women than perimenopausal women (P < 0. 01). The incidence of osteoporosis in postmenopausal women was 34%. Conclusion The frequency distribution of the VDR genotype in Chinese peri － and postmenopausal women were apparently different from that in Western countries. The correlation between the VDR genotype and BMD was not found.