维生素D受体基因BsmⅠ多态性与北方汉族成人慢性肾功能不全骨密度的关系.doc

维生素D受体基因BsmⅠ多态性与北方汉族成人 慢性肾功能不全骨密度的关系 王玉浔安雅臣Scr）水平分为肾功能不全组和肾功能衰竭组，采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）的方法检测VDR基因BsmⅠ多态性位点，对慢性肾功能不全相关的因素进行问卷调查，同时检测入院24小时内肝肾功能、血钾、钠、氯、钙、磷、甲状腺功能、血甲状旁腺激素水平及腰椎L2-4、颈椎、Wards三角3部位骨密度。用Pearson相关分析年龄及体质指数（BMI）与骨密度的关系，用协方差分析的方法比较年龄、BMI校正后各部位骨密度与VDR基因型之间的关系。结果 肾功能不全组和肾功能衰竭组VDR基因BsmⅠ多态性分布无统计学意义（χ2=0.088，p=0.591）；年龄、BMI与骨密度的Pearson相关分析发现，年龄与各部位的骨密度呈负相关（P＜0.01）；BMI与骨密度值呈正相关（P＜0.01）。采用协方差分析在对年龄与BMI进行校正后，对不同部位的骨密度值与VDR基因型相关性进行分析，发现腰椎的骨密度值与VDR不同基因型的差异有显著性意义（P＜0.05），aa基因型具有较低骨密度（P＜0.05）。结论 VDR基因BsmⅠ位点多态性与慢性肾功能不全患者骨密度存在关联，可能是影响骨密度的遗传易感因素。 【关键词】慢性肾功能不全，VDR基因多态性，骨密度，聚合酶链反应-限制性片段长度多态性分析. The association of Vitamin D receptor gene polymorphism with bone mineral density of the chronic renal failure patients of the North China WANG Yu-xun,AN Ya-chen, WANG Yu-hua，JI Chun-mei, LIU Guo-ron, ZHAO Xiao-jing, GAO Su-ling, ZHANG Jiang, WANG-yan, SHI Guo-hui. Department of Neurology, Affiliated Hospital, the Hebei United University，Tangshan，Hebei 063000，P.R.China 【Abstract】Objective:To investigate the association of Vitamin D receptor gene polymorphism with bone mineral density of the chronic renal failure patients of the North China. Method: A total of 211 patients with chronic renal failure coming from unrelated familes who lived in the North China for many years were selected. The subjects were divided into chronic renal failure group(n=110) and uremia group(n=101) by the level of serum creatinine. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technique were used to type VDR BsmⅠpolymorphisms. Information on environmental-related risk factors was collected using a pre-tested standard questionnaire. Bone mineral density was measured by Dual energy x-way absorptiometry. Concentration of serum intact parathyroid hormone was measured by radioimmunoassay. Results: The genotype frequency distribution of Vitamin D receptor gene followed the Hardy-Weinberg equilibrium(χ2=1.034，P=0.210). According to χ2 test, there was no significant diffe