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
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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所起的作用。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(t=-6.696,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(53.2% vs 25%),基因型分布频率差异有统计学意义(χ2=10.221,P<0.05),病例组F等位基因频率明显高于对照组(73.4%vs 56.7%),等位基因分布频率(χ2=7.511,P<0.05)差异有统计学意义。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 of 1-3 year old, and to explore the significance of hereditary factors in the development of vitamin D deficiency rickets.
Methods This was a case control study. The subjects were composed of two groups, the patient group consisted of 62 children with vitamin D deficiency rickets, the control group was composed of 60 healthy children. The level of 25-hydroxyvitamin D3 in both groups was analyzed by Enzyme-Linked Immunosorbnent Assay (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 FokⅠwas tested in both groups. The frequencies of the vitamin D receptor genotype and allele were compared between the two groups.
Results There was a significant difference in the serum 25-hydroxyvitamin D3 between two groups (t=-6.696, P<0.05). The FF genotype and F allele were more common in patient group than in control group, respectively, There was a significant difference in the frequency distribution of vitamin D receptor genotype and allelic genes between two groups (x2= 10.221, P<0.05;x2= 7.511, P<0.05).
Conclusion There is a correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets. This study suggested the possibility that vitamin D receptor genetic polymorphism might be important in determining susceptibility to development of vitamin D deficiency rickets.
Objective To study the correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets in children of 1-3 year old, and to explore the significance of hereditary factors in the development of vitamin D deficiency rickets.
Methods This was a case control study. The subjects were composed of two groups, the patient group consisted of 62 children with vitamin D deficiency rickets, the control group was composed of 60 healthy children. The level of 25-hydroxyvitamin D3 in both groups was analyzed by Enzyme-Linked Immunosorbnent Assay (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 FokⅠwas tested in both groups. The frequencies of the vitamin D receptor genotype and allele were compared between the two groups.
Results There was a significant difference in the serum 25-hydroxyvitamin D3 between two groups (t=-6.696, P<0.05). The FF genotype and F allele were more common in patient group than in control group, respectively, There was a significant difference in the frequency distribution of vitamin D receptor genotype and allelic genes between two groups (x2= 10.221, P<0.05;x2= 7.511, P<0.05).
Conclusion There is a correlation between vitamin D receptor genetic polymorphism FokⅠand vitamin D deficiency rickets. This study suggested the possibility that vitamin D receptor genetic polymorphism might be important in determining susceptibility to development of vitamin D deficiency rickets.
引文
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[6]Yoshizawa T, Handa Y, Uemasu Y, et al.Mice lacking the vitamin D receptor exhibit impaired bone foumation, uterine hypoplasia and growth retardation after weaning [J]. Nature Genetics,1997,16(4):391-396.
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[8]杨侃。骨碱性磷酸酶检测在维生素D缺乏性佝偻病诊断与疗效评估中的价值[J]。华夏医学,2008,21(1)：45-47.
[9]汪玉堂,韦祁山。兰州市947例1岁以内婴幼儿骨碱性磷酸酶检测结果分析示[J]。临床实践,2005,23(23)：93-94.
[10]刘欢欢,王彬,王雁。血清维生素D水平与儿童晚发性佝偻病临床症状的关系[J]。解放军医学杂志,2007,32(1)：66-67.
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[20]Ye WZ, Reis AF, Velho G, et al. Identification of a novel Tru9 polymorphism in the human Vitamin D receptor gene[J]. Human Genetics,2000,45(1):56-57.
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[22]Stewart TL, Ralston SH, et al. Role of genetic factors in the Pathogenesis of osteoporosis[J].Endocrinol,2000,166:235-245.
[23]Uitterlinden GA, Fang Y, Berfink AP, et al.The role of vitamin D receptor gene polymorphisms in bone biology[J]. Molecular and Cellular Endocrinology,2002,197(1-2):15-21.
[24]席卫平,杨建平,李连青等。维生素D受体基因Apa Ⅰ多态性与儿童佝偻病的关系研究[J]。中华儿科杂志,2005,43(7)：514-516.
[25]杨建平,席卫平,李连青等。维生素D受体基因Bsm Ⅰ多态性与儿童佝偻病的关系研究[J]。中国实用儿科杂志,2006,21(1)：61-62.
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[27]徐凤兰,吴云,邢玉凤等。维生素D缺乏性佝偻病遗传易感性的研究[J]。中国妇幼健康研究,2008,19(2)：95-97.
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[19]Shigeaki Kato. Molecular mechanism of transcriptional control by nuclear vitamin receptors[J]. British Journal of Nutrition,2000,84(2):S229-33.
[20]Yoshizawa T, Handa Y, Uemasu Y, et al.Mice lacking the vitamin D receptor exhibit impaired bone foumation, uterine hypoplasia and growth retardation after weaning [J]. Nature Genetics,1997,16(4):391-396.
[21]席卫平,杨建平,李连青等。维生素D受体基因Apa Ⅰ多态性与儿童佝偻病的关系研究[J]。中华儿科杂志,2005,43(7)：514-516.
[22]杨建平,席卫平,李连青等。维生素D受体基因Bsm Ⅰ多态性与儿童佝偻病的关系研究[J]。中国实用儿科杂志,2006,21(1)：61-62.
[23]吴胜虎,余晓丹,颜崇淮等。维生素D缺乏性佝偻病遗传易感性的研究[J]。中国妇幼保健,2006,22(21)：3308-3091.
[24]徐凤兰,吴云,邢玉凤等。维生素D缺乏性佝偻病遗传易感性的研究[J]。中国妇幼健康研究,2008,19(2)：95-97.
[25]龚晓辉,李海林,黄永坤等。维生素D受体基因TAQ Ⅰ多态性及其缺乏性佝偻病易感因素研究[J]。中国儿童保健杂志,2004,12(6)：481-486.
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[27]张维华,李宇宁,金玉等。维生素D受体基因Fok Ⅰ、Taq Ⅰ多态性与女性婴幼儿佝偻病的相关性[J]。实用儿科临床杂志,2009,24(7)：505-507.
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