汉族人维生素D受体基因TruⅠ和FokⅠ多态性与腰椎间盘退变的关系

Association of vitamin D receptor gene TruⅠ and FokⅠ polymorphisms with lumbar degenerative disc disease in Han nationality

[目的]探讨汉族人维生素D受体(vitamin D receptor,VDR)基因多态性与腰椎间盘退变(lumbar discdegeneration,LDD)的关系。[方法]收集182例汉族人静脉血标本和腰椎MRI,其中对照组101例,病例组81例。用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polymorphism,PCR-RFLP)法测定2组标本的VDR基因TruⅠ和FokⅠ酶切位点多态性;根据MRI显示的信号差异按Schneiderman分级法确定各个体腰椎间盘的退变程度,分无、轻、中、重4组。分析病例对照组中基因型、等位基因频率的分布规律,分析其中小于45岁(包括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]对照组中FokⅠ和TruⅠ的等位基因频率分布为:F59.4%,f40.6%和T79.2%,t20.8%;病例组中FokⅠ和TruⅠ等位基因频率的分布为:F53.7%,f46.3%和T80.9%,t19.1%,二组中的分布差别无统计学意义,P>0.05;在MRI分组中VDR基因TruⅠ和FokⅠ酶切位点的基因型和等位基因频率在组中分布差异也无显著性,P>0.05。[结论]VDR基因TruⅠ和FokⅠ酶切位点多态性和汉族人LDD无关。

[ Objective] To investigate the association of Vitamin D Receptor （VDR） gene polymorphisms to lumbar disc degneration （LDD） in Han nationality. [Method] Blood samples and MRI from 182 Han people were collected, including 81 patients with LDD and 101 healthy individuals. VDR Tru I and VDR Fok I polymorphisms were tested by PCR-Restriction Fragment Length Polymorphism （PCR-RFLP） assay. The level of lumbar disc degeneration in the cases younger than 45 years old （ including 45） was determined by the signal intensity on MRI according to Schneiderman＇s classification system, and divided into four groups; no, slight, moderate, and severe degeneration. The distribution of the genotypes and allele frequencies in the case-control groups were analyzed; the same distribution rule in the MRI groups were also analyzed. [ Result] The fiequencies of the VDR Fok Ⅰ and VDR Tru Ⅰ alleles in the control group were ： F 59. 4%, f 40. 6%, T 79. 2%, t 20. 8%, vs. F 53.7%, f 46. 3%, T 80. 9%, t 19. 1% in the patient groups, it showed no statistically difference, P 〉 0. 05 ; the distribution in the MRI groups had not difference, P 〉 0. 05. [ Conclusion] VDR Tru Ⅰ and Fok Ⅰ polymorphisms are not related to LDD in Han nationality.