维生素D受体基因多态性与儿童相关疾病的研究进展
摘要
<正>维生素D是一种固醇类衍生物,依赖维生素D受体(VDR)在人体中发挥广泛的生理功能。VDR能在多种组织和细胞中表达,由VDR基因编码。研究表明VDR与呼吸系统、免疫系统、心血管系统、血液系统、内分泌系统、神经系统及肿瘤等疾病的发生密切相关。VDR基因在人群中存在多态性分布,本文就VDR基因多态性与儿童相关疾病的研究做一综述。
引文
[1]Zmuda JM,Cauley JA,Ferrell RE.Molecular epidemiology of vitamin D receptor gene variants[J].Epidemiol Rev,2000,22(2):203-217.
[2]王鹏,贾彦彬,周立社.维生素D受体基因多态性与骨质疏松症关系的研究进展[J].中外健康文摘,2012,9(5):438-439.
[3]Arai H,Miyamoto K,Taketani Y,et al.A vitamin D receptor gene polymorphism in the translation initiation codon:effect on protein activity and relation to bone mineral density in Japanese women[J].J Bone Miner Res,1997,12(6):915-921.
[4]Arai H,Miyamoto KI,Yoshida M,et al.The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene[J].J Bone Miner Res,2001,16(7):1256-1264.
[5]Quevedo L I,Martínez B M,Castillo N M,et al.Vitamin D receptor gene polymorphisms and risk of hip fracture in Chilean elderly women[J].Rev Med Chil,2008,136(4):475-481.
[6]Panierakis C,Goulielmos G,Mamoulakis D,et al.Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete,Greece[J].Clin Immunol,2009,133(2):276-281.
[7]Ye WZ,Reis AF,Velho G.Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene[J].J Hum Genet,2000,45(1):56-57.
[8]ZajíckováK,KrepelováA,ZofkováI.A single nucleotide polymorphism under the reverse primer binding site may lead to Bsm I misgenotyping in the vitamin D receptor gene[J].J Bone Miner Res,2003,18(10):1754-1757.
[9]田薇,陈艳,赵江霞,等.维、哈及汉族儿童维生素D受体基因Fok I位点多态性的研究[J].新疆医科大学学报,2008,31(4):430-432.
[10]全京花,鲁衍强,李瑛.延边地区朝鲜族儿童维生素D受体基因Fok I位点多态性研究[J].中国儿童保健,2015,23(4):351-353.
[11]刘建河,李鸿伟,佟明,等.北方汉族人群易感基因多态性与前列腺癌危险关系及对发病种族差异的分析[J].中华医学杂志,2004,84(4):364-368.
[12]Ukaji M,Saito Y,Fukushima-Uesaka H,et al.Genetic variations of VDR/NR1I1 encoding vitamin D receptor in a Japanese population[J].Drug Metab Pharmacokinet,2007,22(6):462-467.
[13]John EM,Schwartz GG,Koo J,et al.Sun exposure,vitamin D receptor gene polymorphisms,and breast cancer risk in a multiethnic population[J].Am J Epidemiol,2007,166(12):1409-1419.
[14]何进卫,黄琪仁,章振林,等.雌激素受体α和维生素D受体基因多态性与上海市妇女峰值骨量的关系[J].中华内分泌代谢杂志,2004,20(3):140-142.
[15]Lin WY,Wan L,Tsai CH,et al.Vitamin D receptor gene polymorphisms are associated with risk of Hashimoto's thyroiditis in Chinese patients in Taiwan[J].J Clin Lab Anal,2006,20(3):109-112.
[16]Remes T,Visnen SB,Mahonen A,et al.Bone mineral density,body height,and vitamin D receptor gene polymorphism in middleaged men[J].Ann Med,2005,37(5):383-392.
[17]黄新文,殷怀明,戴玉景.我国汉族儿童维生素D受体基因多态性分布[J].中国优生与遗传杂志,2002,6:29-30.
[18]张丽娅,白玉蓉,韩昕,等.北京地区部分汉族男性维生素D受体基因Tru9 I多态性与骨密度的关系[J].北京师范大学学报(自然科学版),2010,46(4):485.
[19]殷怀明.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[J].浙江预防医学,2011,23(6):18-19.
[20]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].中国当代儿科杂志,2006,8(2):121-124.
[21]卢娟娟,李宇宁,金玉,等.维生素D受体多态性与晚发性佝偻病易感性研究[J].中华儿科杂志,2007,45(1):45-49.
[22]Fischer PR,Thacher TD,Pettifor JM,et al.Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children[J].J Bone Miner Res,2000,15(11):2206-2210.
[23]Bora G,Ozkan B,Dayanga-Erden D,et al.Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets[J].Turk J Pediatr,2008,50(1):30-33.
[24]王光,孙利炜,焦立新,等.佝偻病患儿维生素D受体基因多态性的研究[J].中华儿科杂志,2004,42(10):788-789.
[25]饶湖英.维生素D受体基因多态性与血铅相关性研究[D],广州:广州医学院,2013.
[26]闫娟,王培席,杨跃林,等.维生素D受体基因多态性对血铅及血清钙影响[J].中国公共卫生,2007,23(10):1159-1160.
[27]邱戌旦.维生素D受体基因多态性与哮喘相关性的Meta分析[D].杭州:浙江大学,2014.
[28]马金海,汤长超,张学红,等.VDR基因多态性与宁夏回族儿童哮喘相关性研究[J].宁夏医学杂志,2014,36(10):870-873+864.
[29]李卫国.维生素D缺乏和人类疾病[J].国际儿科学杂志,2011,38(5):474-476.
[30]Lewis SJ,Baker I,Davey Smith G.Meta-analysis of vitamin D receptor polymorphisms and pulmonary tuberculosis risk[J].Int J Tuberc Lung Dis,2005,9(10):1174-1177.
[31]Bjrnvold M,Undlien DE,Joner G,et al.Joint effects of HLA,INS,PTPN22 and CTLA4 genes on the risk of type 1 diabetes[J].Diabetologia,2008,51(4):589-596.
[32]王凌飞,张耀东,卫海燕.维生素D受体基因BsmⅠ位点多态性与儿童1型糖尿病发生的Meta分析[J].中华妇幼临床医学杂志(电子版),2013,9(3):357-360.
[33]谭静,张耀东.维生素D受体基因Fok I位点多态性与儿童1型糖尿病相关性分析[J].社区医学杂志,2013,11(2):10-13.
[34]王红清,徐佩茹,李敏,等.新疆汉族和哈萨克族儿童维生素D受体基因多态性与超重或肥胖的关系研究[J].中国全科医学,2015,8(18):2141-2147.
[35]Vogiatzi MG,Macklin EA,Trachtenberg FL,et al.Differences in the prevalence of growth,endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America[J].Br J Haematol,2009,146(5):546-556.
[36]Fung EB,Aguilar C,Micaily I,et al.Treatment of vitamin D deficiency in transfusion-dependent thalassemia[J].Am J Hematol,2011,86(10):871-873.
[37]Singh K,Kumar R,Shukla A,et al.Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India[J].Hematology,2012,17(5):291-296.
[38]李仕勇,陈一菁,邹金林,等.地中海贫血患儿维生素D水平及影响因素分析[J].中国儿童保健杂志,2015,23(2):119-122.
[39]王珍珍,王学梅,严媚,等.维生素D受体基因Ⅰ多态性与新疆维吾尔族、汉族儿童急性白血病的相关性研究[J].中国现代医学杂志,2015,25(35):58-61.
[40]郑敏,罗建明.维生素D受体基因Bsm I位点多态性与儿童白血病易感性的关系研究[J].实用医学杂志,2010,39(21):3896-3898.
[2]王鹏,贾彦彬,周立社.维生素D受体基因多态性与骨质疏松症关系的研究进展[J].中外健康文摘,2012,9(5):438-439.
[3]Arai H,Miyamoto K,Taketani Y,et al.A vitamin D receptor gene polymorphism in the translation initiation codon:effect on protein activity and relation to bone mineral density in Japanese women[J].J Bone Miner Res,1997,12(6):915-921.
[4]Arai H,Miyamoto KI,Yoshida M,et al.The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene[J].J Bone Miner Res,2001,16(7):1256-1264.
[5]Quevedo L I,Martínez B M,Castillo N M,et al.Vitamin D receptor gene polymorphisms and risk of hip fracture in Chilean elderly women[J].Rev Med Chil,2008,136(4):475-481.
[6]Panierakis C,Goulielmos G,Mamoulakis D,et al.Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete,Greece[J].Clin Immunol,2009,133(2):276-281.
[7]Ye WZ,Reis AF,Velho G.Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene[J].J Hum Genet,2000,45(1):56-57.
[8]ZajíckováK,KrepelováA,ZofkováI.A single nucleotide polymorphism under the reverse primer binding site may lead to Bsm I misgenotyping in the vitamin D receptor gene[J].J Bone Miner Res,2003,18(10):1754-1757.
[9]田薇,陈艳,赵江霞,等.维、哈及汉族儿童维生素D受体基因Fok I位点多态性的研究[J].新疆医科大学学报,2008,31(4):430-432.
[10]全京花,鲁衍强,李瑛.延边地区朝鲜族儿童维生素D受体基因Fok I位点多态性研究[J].中国儿童保健,2015,23(4):351-353.
[11]刘建河,李鸿伟,佟明,等.北方汉族人群易感基因多态性与前列腺癌危险关系及对发病种族差异的分析[J].中华医学杂志,2004,84(4):364-368.
[12]Ukaji M,Saito Y,Fukushima-Uesaka H,et al.Genetic variations of VDR/NR1I1 encoding vitamin D receptor in a Japanese population[J].Drug Metab Pharmacokinet,2007,22(6):462-467.
[13]John EM,Schwartz GG,Koo J,et al.Sun exposure,vitamin D receptor gene polymorphisms,and breast cancer risk in a multiethnic population[J].Am J Epidemiol,2007,166(12):1409-1419.
[14]何进卫,黄琪仁,章振林,等.雌激素受体α和维生素D受体基因多态性与上海市妇女峰值骨量的关系[J].中华内分泌代谢杂志,2004,20(3):140-142.
[15]Lin WY,Wan L,Tsai CH,et al.Vitamin D receptor gene polymorphisms are associated with risk of Hashimoto's thyroiditis in Chinese patients in Taiwan[J].J Clin Lab Anal,2006,20(3):109-112.
[16]Remes T,Visnen SB,Mahonen A,et al.Bone mineral density,body height,and vitamin D receptor gene polymorphism in middleaged men[J].Ann Med,2005,37(5):383-392.
[17]黄新文,殷怀明,戴玉景.我国汉族儿童维生素D受体基因多态性分布[J].中国优生与遗传杂志,2002,6:29-30.
[18]张丽娅,白玉蓉,韩昕,等.北京地区部分汉族男性维生素D受体基因Tru9 I多态性与骨密度的关系[J].北京师范大学学报(自然科学版),2010,46(4):485.
[19]殷怀明.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[J].浙江预防医学,2011,23(6):18-19.
[20]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].中国当代儿科杂志,2006,8(2):121-124.
[21]卢娟娟,李宇宁,金玉,等.维生素D受体多态性与晚发性佝偻病易感性研究[J].中华儿科杂志,2007,45(1):45-49.
[22]Fischer PR,Thacher TD,Pettifor JM,et al.Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children[J].J Bone Miner Res,2000,15(11):2206-2210.
[23]Bora G,Ozkan B,Dayanga-Erden D,et al.Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets[J].Turk J Pediatr,2008,50(1):30-33.
[24]王光,孙利炜,焦立新,等.佝偻病患儿维生素D受体基因多态性的研究[J].中华儿科杂志,2004,42(10):788-789.
[25]饶湖英.维生素D受体基因多态性与血铅相关性研究[D],广州:广州医学院,2013.
[26]闫娟,王培席,杨跃林,等.维生素D受体基因多态性对血铅及血清钙影响[J].中国公共卫生,2007,23(10):1159-1160.
[27]邱戌旦.维生素D受体基因多态性与哮喘相关性的Meta分析[D].杭州:浙江大学,2014.
[28]马金海,汤长超,张学红,等.VDR基因多态性与宁夏回族儿童哮喘相关性研究[J].宁夏医学杂志,2014,36(10):870-873+864.
[29]李卫国.维生素D缺乏和人类疾病[J].国际儿科学杂志,2011,38(5):474-476.
[30]Lewis SJ,Baker I,Davey Smith G.Meta-analysis of vitamin D receptor polymorphisms and pulmonary tuberculosis risk[J].Int J Tuberc Lung Dis,2005,9(10):1174-1177.
[31]Bjrnvold M,Undlien DE,Joner G,et al.Joint effects of HLA,INS,PTPN22 and CTLA4 genes on the risk of type 1 diabetes[J].Diabetologia,2008,51(4):589-596.
[32]王凌飞,张耀东,卫海燕.维生素D受体基因BsmⅠ位点多态性与儿童1型糖尿病发生的Meta分析[J].中华妇幼临床医学杂志(电子版),2013,9(3):357-360.
[33]谭静,张耀东.维生素D受体基因Fok I位点多态性与儿童1型糖尿病相关性分析[J].社区医学杂志,2013,11(2):10-13.
[34]王红清,徐佩茹,李敏,等.新疆汉族和哈萨克族儿童维生素D受体基因多态性与超重或肥胖的关系研究[J].中国全科医学,2015,8(18):2141-2147.
[35]Vogiatzi MG,Macklin EA,Trachtenberg FL,et al.Differences in the prevalence of growth,endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America[J].Br J Haematol,2009,146(5):546-556.
[36]Fung EB,Aguilar C,Micaily I,et al.Treatment of vitamin D deficiency in transfusion-dependent thalassemia[J].Am J Hematol,2011,86(10):871-873.
[37]Singh K,Kumar R,Shukla A,et al.Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India[J].Hematology,2012,17(5):291-296.
[38]李仕勇,陈一菁,邹金林,等.地中海贫血患儿维生素D水平及影响因素分析[J].中国儿童保健杂志,2015,23(2):119-122.
[39]王珍珍,王学梅,严媚,等.维生素D受体基因Ⅰ多态性与新疆维吾尔族、汉族儿童急性白血病的相关性研究[J].中国现代医学杂志,2015,25(35):58-61.
[40]郑敏,罗建明.维生素D受体基因Bsm I位点多态性与儿童白血病易感性的关系研究[J].实用医学杂志,2010,39(21):3896-3898.