上海地区汉人维生素D受体基因多态性与骨密度关系的初步分析

目的：了解维生素D受体（VDR）基因多态性在中国人群中的分布，并进一步研究其与骨密度的关系。方法：通过聚合酶链反应－限制性片段长度多态性（PCR－RFLP）方法分析了348例无亲缘关系的上海地区男女居民的VDR基因型，并用双能X线吸收仪测定了其中202例骨密度。结果：348例研究对象中bb型占81．9％，Bb型占18．1％，未见到BB型。b等位基因在本组人群中分布 高达90．0％。男女性之间VDR基因型分布频率无明显区别（P＞0．5）。比较这两组各部位的骨密度值，只有女性在华氏三角区部位显示出Bb型比bb型有较高的BMD，在其余部位，不管男性还是女性，两组基因型的BMD均差异无显性（P＞0．05）。结论：VDR基因多态性与骨密度无相关关系。

Relation ship between bone mineral density and polymorphism of vitamin D receptor gene in Hans in ShangHai

Objective To investigate the prevalence of polymorphism of the vitamin D receptor (VDR) gene in Chinese people,and study the relationship between bone mineral density (BMD) and polymorphism of VDR gene. Methods The patterns of VDR gene of 348 people in Shanghai were identified by polymerase chain reaction_restriction fragment length polymorphism and BMD of 202 of them were determined by dual|energy X|ray absorptionetry. Results The frequencey distribution of geotypes bb,Bb,BB was 0^819,0^180,0^0,respectively.The b allelic frequencies reached as high as 0^909.ANOVA Analysis indicated that there was no significant difference in BMD between the two groups of genotypes,with exception of BMD in Ward's triangle. Conclusion There is no significant association of polymorphism in VDR gene with BMD