维生素D受体基因多态性对儿童营养性佝偻病骨代谢的影响

Influence of Vitamin D Receptor Gene Polymorphism on Bone Metabolism in Ricket

目的探讨维生素D受体(VDR)基因多态性对营养性佝偻病患儿骨代谢影响。方法用聚合酶链反应限制性内切酶Bsm I酶切技术检测了92例营养性佝偻病患儿VDR基因型,同时测定骨代谢指标,并分析两者间的关系。结果 92例营养型佝偻病患儿VDR基因Bsm I多态性频率分别为bb 93.48%,Bb 4.35%,BB 2.17%;bb基因型组患儿血清骨钙素水平明显高于Bb基因组及BB基因型组患儿(P均<0.05)。3组间血清钙、磷、碱性磷酸酶、降钙素差异均无统计学意义。结论营养性佝偻病Bsm I酶切位点VDR基因多态性与骨钙素有一定关联。

Objective To explore the influence of vitamin D receptor gene polymorphism on bone metabolism among patients with ricket.Methods The polymerase chain reaction and BsmI restriction enzyme were used to detect VDR genotypes in 92 ricket cases.Bone metabolism indexes（calcium,phosphorum,alkaline phosphates,ostocalcin and calcitonin） were measured.Analyzing the relation between VDR genotype and the indexes.Results The frequencies of BsmI polymorphism were 93.48% for bb,4.35% for Bb and 2.17% for BB genotypes.The average ostocalcin concentration in rickets with bb genotype（44.57±8.05）ng/ml was significantly higher than those with Bb genotype（30.51±6.19）ng/ml and BB genotype（26.75±7.71）ng/ml（all P0.05）.No significant difference was found in calcium,phosphorum,alkaline phosphatase and calcitonin among the patients with the three genotypes.Conclusion VDR receptor genotype of BsmI restriction enzyme is related to ostocalcin in ricket.