佝偻病维生素D受体基因多态性与25-羟维生素D_3相关性  

Correlation between vitamin D receptor genetic polymorphism and 25-hydroxyvitamin D_3 in vitamin D deficiency rickets

作　　者：弓毅谷[1] 李宇宁[1] 张维华[1] 刘丽君[1] 康曦光[1] 

机构地区：[1]兰州大学第一医院儿科,甘肃兰州730000

出　　处：《中国当代儿科杂志》2010年第7期544-546,共3页Chinese Journal of Contemporary Pediatrics

基　　金：兰州市科技局科研基金项目资助(2009-1-51)

摘　　要：目的研究1～3岁佝偻病患儿中维生素D受体基因多态性FokⅠ位点与佝偻病相关性,初步探讨维生素D受体基因多态性FokⅠ位点在佝偻病发病中的作用。方法病例组(佝偻病患儿)62例与对照组(正常健康儿童)60例,用ELISA方法检测血清25-羟维生素D3水平,比较两组之间血清25-羟维生素D3水平。用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测病例组和对照组维生素D受体基因多态性FokⅠ位点,比较两组之间基因型和等位基因分布频率。结果病例组血清25-羟维生素D3水平较对照组明显降低,差异有统计学意义(9.1±4.1ng/mLvs16.1±6.9ng/mL;P<0.05)。维生素D受体基因多态性FokⅠ位点病例组FF基因型明显高于对照组(53%vs25%),基因型分布频率差异有统计学意义(2=10.221,P<0.05),病例组F等位基因频率明显高于对照组(73%vs57%),等位基因分布频率差异有统计学意义(2=7.511,P<0.05)。结论维生素D受体基因多态性FokⅠ位点与佝偻病有相关性,提示其在佝偻病遗传易感性方面起重要作用。Objective To study the correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets in children between 1 to 3 years old,and to explore the significance of hereditary factors in the development of vitamin D deficiency rickets.Methods Sixty-two children with vitamin D deficiency rickets and 60 healthy children as a control group were enrolled.Serum levels of 25-hydroxyvitamin D3 were measured using ELISA.Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） genetic analysis method was used.A restriction fragment length polymorphism in the vitamin D receptor genetic polymorphism Fok I was tested.The frequencies of the vitamin D receptor genotype and allele were compared between the two groups.Results Serum 25-hydroxyvitamin D3 levels in the rickets group were significantly lower than those in the control group（9.1 ± 4.1 ng /mL vs 16.1 ± 6.9 ng /mL;P〈0.05）.FF genotype in the vitamin D receptor genetic polymorphism Fok I was more common in the rickets group than in the control group（53% vs 25% ;P〈0.05）.F allele frequency in the rickets group was significantly higher than that in the control group（73% vs 57% ;P〈0.05）.Conclusions There is a correlation between vitamin D receptor genetic polymorphism Fok I and vitamin D deficiency rickets.This suggests that vitamin D receptor genetic polymorphism might play an important role in determining susceptibility to development of vitamin D deficiency rickets.

关 键 词：维生素D缺乏性佝偻病 维生素D受体基因多态性 25-羟维生素D3 儿童 

分 类 号：R723[医药卫生—儿科]