糖皮质激素所致骨质疏松与维生素D受体基因型相关性的初步研究  

Relationship between glucocorticoid-induced osteoporosis and vitamine receptor genotypes

作　　者：李裕明[1] 徐琳[1] 陈璐璐[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院内分泌科,武汉430022

出　　处：《中华风湿病学杂志》2003年第10期608-611,共4页Chinese Journal of Rheumatology

摘　　要：目的　利用聚合酶链反应 限制性片段长度多态性方法 (PCR RFLP)研究长期接受糖皮质激素治疗患者的维生素D受体 (VDR)基因型与骨密度 (BMD)之间的关系。方法　收集 71例长期服用糖皮质激素的风湿性疾病患者的临床资料及静脉血 ,双能X线骨密度仪测定其BMD。提取基因组DNA行PCR扩增出约 185 0bp的VDR基因片段 ,用限制性内切酶BsmI进行酶切 ,根据酶切后片段长度不同判定基因型 ,并统计分析基因型与BMD及Z值之间的关系。结果　 71例患者中检测出的基因型为Bb和bb两种 ,分布频率分别为 11 3%、88 7% ,其等位基因分布频率符合遗传平衡定律 (Hardy Weinberg定律 )。两种基因型间年龄、性别比、体重指数 (BMI)、病程、病种构成比、服用激素时间及激素累积量之间差异无显著性 (P >0 0 5 )。Bb及bb基因型患者的骨质疏松发生率分别为 37 5 %和 33 3% ,差异无显著性 (χ2 =0 0 5 ,P =0 8)。两种基因型患者间腰椎、髋部的BMD和Z值有一定的差异 ,但无统计学意义。结论　①我国汉族人群VDR基因型以bb为主 ,Bb其次 ,BB基因型分布频率最低。②长期接受糖皮质激素治疗的患者中 ,Bb和bb两种基因型间骨密度差异无显著性 ,VDR基因型不能预测糖皮质激素相关性骨质疏松发生的危险性 。Objective By means of polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) assay,the association between vitamin D receptor (VDR) genotypes and bone mineral density (BMD) in the patients with rheumatosis who received long term glucocorticoid therapy was studied.Methods The clinical data and blood of 71 patients with rheumatosis who received long term glucocorticoid therapy were collected.BMD was measured by dual energy X ray absorptimometry.VDR gene fragment (about 1 850 bp) was amplified with PCR from the extracted genomic DNA,then digested with restriction endonuclease Bsm I.The genotypes were evaluated based on the fragment length following endonuclease digestion and the association between genotypes and BMD or Z score values was analyzed.Results Among the 71 cases,the detected genotypes were Bb and bb with whose distribution frequency being 11 3% and 88 7% respectively.The distribution frequency of the alleles was in agreement with the Hardy Weinberg equilibrium.There was no significant difference between the two genotypes in age,gender,body mass index (BMI),disease duration,disease types,time of glucocorticoid administration and cumulative dosage ( P >0 05).Osteoporosis rate of the patients with Bb or bb genotype was 37 5% and 33 3% respectively,with no significant difference ( χ 2=0 05, P =0 8).The BMD and Z score values at lumbar spine and femur in two genotypes were different,but not significant ( P >0 05).Conclusion The distribution frequency of bb type of VDR genotypes in Han populations of China was more prevalent,followed by Bb and bb types in turn.In the patients receiving long term glucocorticoid therapy,there is no significant difference in BMD between Bb and BB genotypes.The data suggest that the VDR genotypes may not be a means to identify patients at great risk of glucocorticoid induced osteoporosis,which await to be further confirmed with a large sample size.

关 键 词：糖皮质激素 骨质疏松 维生素D受体 基因型 骨密度 

分 类 号：R58[医药卫生—内分泌]