女性青少年特发性脊柱侧凸患者维生素D受体基因多态性与低骨量的相关性研究

摘要

Objective To investigate the association of vitamin D receptor (VDR) gene polymorphisms with low bone mineral density(BMD) in adolescent idiopathic scoliosis (AIS) girls. Methods Blood samples were obtained from 146 AIS girls and 146 healthy girls. Anthropometric parameters of AIS group including age, body height, weight and Cobb angle were all recorded. Polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique was used to detect and analyze VDR gene distributions of AIS group and control group. BMD of the lumbar spine (L1-L4) and proximal femur were measured using dual energy x-ray absorptiometry in AIS group. Results The frequency of Bb genotype was significantly higher in patients than that in controls (P<0.05). There was no distinction among the lumbar spine and proximal femur BMD of each genotype in AIS group ( P>0.05). Conclusion VDR gene polymorphiams have no association with the low spine lumbar and proximal femur BMD in AIS girls.%目的 检测青少年特发性脊柱侧凸(AIS)女性患者与对照组维生素D受体(VDR)基因型分布情况并比较AIS患者组内不同基因型的骨密度值,探讨VDR基因多态性与AIS患者低骨量之间的关系.方法 对2004年4月至2007年10月门诊就诊的146例AIS女性患者进行人体形态学测量,记录其年龄、身高、体重、Cobb角等指标,应用双能X线骨密度吸收仪测定其腰椎和股骨近端的骨密度,并收集其静脉血标本.经体检收集146名健康女性青少年静脉血标本作为对照.应用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)检测分析AIS组及对照组VDR基因型,比较两组间基因型分布情况和AIS组内各基因型间的骨密度差异.结果 AIS组Bb基因型频率明显高于对照组,但AIS组内的各基因型骨密度之间并无差异.结论 VDR基因多态性并不影响VDR介导的骨量吸收与积累.