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目的研究维生素D受体基因多态性与0～6岁汉族儿童骨密度(BMD)的关系,为临床儿童低BMD的早期预防提供理论依据。方法上海新华医院上海市儿科医学研究所2002年7月至2004年3月收集排除影响骨代谢疾病的上海地区0～6岁汉族儿童204例,进行问卷调查、体格测量;用原子吸收分光光度计测血清锌;用放射免疫法测血清25(OH)D3;用超声BMD仪测定胫骨中段骨密度;用聚合酶链反应限制性片段长度多态性方法,分析4个限制性酶切位点(ApaI、TaqI、BsmI、FokI)的多态分布。用多因素协变量方差分析维生素D受体(VDR)基因多态性与BMD的关系。结果多因素协方差分析消除血清25(OH)D3水平、血清锌水平、户外体育活动等因素对BMD的影响后,发现VDR基因BsmI酶切位点等位基因型和FokI酶切位点等位基因型与BMD相关,Bb基因型的BMD百分位数明显低于bb基因型,分别为22.00%和43.14%,差异有显著性(F=5.04,P<0.05);ff基因型骨密度低于Ff与FF基因型,分别为26.97%、37.95%、53.52%,差异有极显著性(F=8.11,P<0.001)。而在ApaI、TaqI酶切位点,不同等位基因型与BMD无关(F=1.08、1.27,P>0.05)。结论VDR基因在BsmI、FokI酶切位点的多态性与0～6岁汉族儿童BMD相关。
Objective To investigate the relationship between vitamin D receptor gene polymorphism and bone mineral density (BMD) in children aged 0 ~ 6 years old in Han nationality, and to provide a theoretical basis for early prevention of low BMD in clinical children. Methods Shanghai Institute of Pediatrics, Shanghai Institute of Pediatrics From July 2002 to March 2004, 204 cases of Han children aged 0 ~ 6 years in Shanghai were excluded from the study, and questionnaires and physical measurements were performed to exclude bone diseases affecting bone metabolism. Atomic absorption spectrophotometer Serum zinc (TUNEL) was measured by radioimmunoassay. BMD of middle tibia was measured by ultrasound BMD. Four restriction enzyme sites were analyzed by restriction fragment length polymorphism (PCR-RFLP) ApaI, TaqI, BsmI, FokI) polymorphism distribution. Relationship between Vitamin D Receptor (VDR) Gene Polymorphism and BMD with Multivariate Covariance Analysis. Results Multivariate covariance analysis eliminated the effect of serum 25 (OH) D3 level, serum zinc level and outdoor physical activity on BMD. The results showed that alleles of BsmI digestion site and FokI digestion site of VDR gene The genotype of BMD was associated with BMD. The percentage of BMD percentiles of Bb genotype was significantly lower than that of bb genotype (22.00% and 43.14%, respectively) (F = 5.04, P <0.05) There were significant differences (F = 8.11, P <0.001) between Ff and FF genotypes in 26.97%, 37.95% and 53.52%, respectively. In ApaI, TaqI restriction sites, different alleles had no correlation with BMD (F = 1.08, 1.27, P> 0.05). Conclusion The polymorphism of VDR gene in BsmI and FokI sites is associated with BMD in Han children aged 0-6 years.