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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。
Objective To investigate the distribution of vitamin D receptor (VDR) gene polymorphisms in Chinese population and to analyze the relationship between VDR genotype and bone mineral density. Methods Polymerase chain reaction (PCR) and restriction enzyme digestion were used to detect the polymorphism of vitamin D receptor gene in 100 cases of perimenopausal women and 48 cases of menopausal women in Beijing. Meanwhile, Densitometer detection of lumbar bone mineral density. The results showed that the distribution frequency of VDR genotype was BB, 2.7%; Bb, 8.1%; bb, 89. 2%. BMD of lumbar vertebrae in perimenopausal women was (1.123 ± 0.105) g / cm ~ 2 for BB genotype and (1.299 ± 0.141) g / cm ~ 2 for BB genotype Type (1.185 ± 0. 130) g / cm ~ 2. The lumbar BMD in postmenopausal women (0. 822 ± 0. 118) g / cm ~ 2 was significantly lower than that in perimenopausal women (1.193 ± 0.134) g / cm ~ 2 (P <0.01). The incidence of osteoporosis in postmenopausal women was 34%. Conclusions The frequency distribution of VDR genotypes in this part of China in Beijing area is different from that in some Western countries. There is no significant correlation between their VDR genotype and bone mineral density.