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目的探讨维生素D受体(VDR)基因BsmⅠ位点多态性与北方汉族成人慢性肾功能不全骨密度的关系,探讨影响骨密度的遗传易感因素。方法选取河北联合大学附属医院连续收治的汉族成人(年龄≥18岁)慢性肾功能不全患者211例,并根据血肌酐(Scr)水平分为肾功能不全组(110例)和肾功能衰竭组(101例),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,对慢性肾功能不全的相关因素进行问卷调查,同时检测入院24h内血甲状旁腺激素水平、血钾、血钠、血氯、血钙、血磷、肝肾功能、甲状腺功能及腰椎L2-4、颈椎、Wards三角3部位骨密度。应用Pearson相关分析年龄及体质指数(BMI)与骨密度之间的关系,再用协方差分析在对年龄、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,BMI与骨密度值呈正相关(P<0.01);年龄与3部位的骨密度呈负相关(P<0.01)。应用协方差分析在对BMI与年龄进行校正后,对3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不同基因型之间的差异有统计学意义(P<0.05),aa基因型具有相对较低骨密度(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。
Objective To investigate the relationship between Bsm Ⅰ polymorphism of vitamin D receptor (VDR) gene and bone mineral density in adults with chronic renal insufficiency in northern Han nationality and to explore the genetic predisposition factors affecting bone mineral density. Methods A total of 211 consecutive CHR patients with chronic renal insufficiency (≥18 years old) admitted to the Affiliated Hospital of Hebei Union University were enrolled and divided into renal dysfunction group (n = 110) and renal failure group (n = 101 cases). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the Bsm Ⅰ polymorphism site of VDR gene. The related factors of chronic renal insufficiency were investigated by questionnaire, Blood levels of parathyroid hormone, blood potassium, blood sodium, blood chlorine, blood calcium, phosphorus, liver and kidney function, thyroid function and lumbar L2-4, cervical vertebra and Wards triangle were measured in 24 hours. Pearson correlation analysis was used to analyze the relationship between age and body mass index (BMI) and bone mineral density (BMD), and the covariance analysis was used to analyze the relationship between bone mineral density (BMD) and VDR genotypes after adjustment for age and BMI. Results The Bsm Ⅰ polymorphism of VDR gene in renal dysfunction group and renal failure group was not statistically significant (χ2 = 0.088, P = 0.591). Pearson correlation analysis of age, BMI and BMD showed that BMI was positively correlated with BMD (P <0.01). There was a negative correlation between age and bone mineral density at 3 sites (P <0.01). After adjusting for BMI and age by covariance analysis, the relationship between BMD and VDR genotypes in three sites was analyzed and found that the difference between lumbar BMD and VDR genotypes was statistically significant (P <0.05), aa genotype had a lower BMD (P <0.05). Conclusion There is a correlation between Bsm Ⅰ polymorphism of VDR gene and bone mineral density in patients with chronic renal failure, which may be the genetic predisposing factor to bone mineral density.