福建地区汉族人群VDR基因TaqⅠ多态性与腰椎间盘退行性变的相关性研究

目的研究维生素D受体（VDR）基因TaqⅠ多态性与福建地区汉族人群腰椎间盘退行性变的关系。方法应用限制性片段长度多态性聚合酶链反应法（PCR-RFLP）对78例腰椎椎间盘退行性疾病（DDD）（腰椎DDD组）及79例非腰椎DDD的健康体检者（对照组）的外周血进行VDR基因TaqⅠ多态性检测,分析2组间基因型和等位基因的频率分布;研究其中小于45岁者基因型及基因频率分布与椎间盘退变程度的关系。结果腰椎DDD组基因型分布：TT 96.2%（75/78）,Tt 3.8%（3/78）;对照组TT 81.0%（64/79）,Tt 19.0%（15/79）。其中TT基因型分布在2组中的差异有统计学意义（P〈0.05）。腰椎DDD组与对照组等位基因T分布频率分别为98.1%（153/156）和90.5%（143/158）,t分别为1.9%（3/156）和9.5%（15/158）,差异有统计学意义（P〈0.05）;在MRI分组中VDR基因TaqⅠ酶切位点的基因型和等位基因频率在组中分布差异有统计学意义（P〈0.05）。结论 VDR基因TaqⅠ多态性与福建地区汉族人群腰椎间盘退行性变发生有一定关系。

Association of vitamin D receptor Taq I gene polymorphisms with lumbar degenerative disc disease in Han nationality of Fujian

Objective To study the relationship between vitamin D receptor （VDR） gene Taq I polymorphism and lumbar spine disc degeneration in Han population of the Fujian. Methods Seventy eight patients with lumbar DDD （lumbar DDD group） and 79 non lumbar spine DDD patients （control group） with Han nationality of Fujian were selected. Their Taq I polymorphism was tested by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）, and frequency distribution between the two groups of genotype and allele were analyzed. Results The distribution of lumbar DDD genotype group was TT 96.2%（75/78）, Tt 3.8%（3/78）; control group TT 81.0%（64/79）, Tt 19.0%（15/79）. The distribution of TT genotypes in two groups had significant difference （P 〈0.05）. The frequency distribution of lumbar vertebrae in DDD group and the control group of T allele were 98.1%（153/156） and 90.5%（143/158）, t were 1.9%（3/156） and 9.5%（15/158）, the difference was statistically significant （P 〈 0.05）. In the MRI group the VDR gene Taq I polymorphism genotype and allele frequency distribution in the group with significant difference （P 〈0.05）. Conclusion VDR gene Taq polymorphism has certain relation to lumbar spine disc degeneration of Fujian Han population.