摘要
目的探讨维生素 D 受体(VDR)基因多态性与青少年特发性脊柱侧凸(AIS)患者低骨量及异常生长模式之间的联系。方法对164例 AIS 女性患者进行人体形态学测量,记录其年龄、身高、体重、臂长、月经情况、Cobb 角、Risser 征等指标,并收集其静脉血标本。经体检收集122名健康女性青少年静脉血标本。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组及正常青少年组 VDR 基因型,比较2组间及 AIS 组内各亚组 VDR 基因型分布情况。结果AIS 组 Bb 基因型及 B 等位基因频率明显高于对照组(P<0.01)。AIS 组内体重指数(BMI)≥18 kg/m^2组 Aa 频率明显高于 BMI<18kg/m^2组(P<0.05),BMI<18 kg/m^2组、臂长<160 cm 组及初潮年龄≥12岁组 Bb 型频率明显高于BMI≥18 kg/m^2组、臂长≥160 cm 组及初潮年龄<12岁组(P<0.05)。结论 VDR 基因 BsmI 位点多态性分布可能与 AIS 女性患者低骨量及异常生长模式有关。
Objective To investigate the association of vitamin D receptor （VDR） gene polymorphisms with abnormal growth pattern and low bone mass in adolescent idiopathic scoliosis （AIS） patients. Methods Peripheral blood samples were 14.4 ±2 （9-20）, and 122 age-matched healthy girls. obtained from 164 female patients with AIS, aged Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to detect the VDR gene distributions. Results The frequency of Bb genotype was significantly higher in the AIS patients than in the controls （ P 〈 0. 01 ）. The frequency of B alleles of the AIS patients was significantly higher than that of the controls （ P 〈 0. 01 ）. In AIS patients, the expression rate of Aa genotype of the AIS patients with the body mass index （BMI） ≥ 18 kg/m^2 was significantly higher than those with the BMI 〈 18 kg/m^2 （P 〈 0. 05 ）, and the expression rate of Bb genotype of the AIS patients with the BMI 〈 18 kg/m^2 and arm span 〈 160 cm was significantly higher than that of the AIS patients with the BMI ≥ 18 kg/m^2 and arm span ≥ 160 cm （ P 〈 0. 05 ）. Conclusion The BsmI site polymorphism of vitamin D receptor gene may be associated with abnormal growth pattern and low bone mass in girls with AIS.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2007年第21期1465-1469,共5页
National Medical Journal of China
基金
国家自然科学基金(30672131)
