Xia Cai-Wei, Qiu Yong, Sun Xu, Qiu Xu-Sheng, Wang Shou-Feng, Zhu Ze-Zhang, Zhu Feng
Department of Spine Surgery, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing 210008, China.
Zhonghua Yi Xue Za Zhi. 2007 Jun 5;87(21):1465-9.
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.
Peripheral blood samples were obtained from 164 female patients with AIS, aged 14.4 +/- 2 (9 - 20), and 122 age-matched healthy girls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the VDR gene distributions.
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) > or = 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 > or = 18 kg/m(2) and arm span > or = 160 cm (P < 0.05).
The BsmI site polymorphism of vitamin D receptor gene may be associated with abnormal growth pattern and low bone mass in girls with AIS.
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）患者生长模式异常及低骨量的相关性。
采集164例年龄为14.4±2（9 - 20岁）的女性AIS患者及122例年龄匹配的健康女孩的外周血样本。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测VDR基因分布。
AIS患者中Bb基因型频率显著高于对照组（P < 0.01）。AIS患者B等位基因频率显著高于对照组（P < 0.01）。在AIS患者中，体重指数（BMI）≥18 kg/m²的AIS患者Aa基因型表达率显著高于BMI < 18 kg/m²的患者（P < 0.05），BMI < 18 kg/m²且臂展< 160 cm的AIS患者Bb基因型表达率显著高于BMI≥18 kg/m²且臂展≥160 cm的AIS患者（P < 0.05）。
维生素D受体基因的BsmI位点多态性可能与AIS女孩的生长模式异常及低骨量有关。
