维生素D及其受体基因多态性与儿童疾病的相关性

doi:10.11852/zgetbjzz2022-1371<br/><br/>

摘要/Abstract

摘要： 人体内的维生素D源于肠道吸收及皮肤合成,属于脂溶性维生素,它不仅参与机体钙磷代谢的调节,还与内分泌、免疫、呼吸等多系统代谢调节相关。而维生素D受体及其基因多态性是维生素D在人体内发挥生物学效应的重要组成部分。本文就近些年来国内外关于血清维生素D水平、维生素D受体基因多态性与儿童呼吸、免疫等系统以及儿童生长发育、代谢等相关疾病的研究进行综述,为维生素D及其受体基因多态性在儿童疾病方面的研究及疾病的预防、治疗起到积极作用。

关键词: 维生素D, 维生素D受体基因, 多态性, 儿童疾病

Abstract: Vitamin D is a fat soluble vitamin, which comes from intestinal absorption and skin synthesis in the human body. It not only participates in the regulation of calcium and phosphorus metabolism, but also is related to the metabolic regulation of endocrine, immune, respiratory and other multiple systems. Vitamin D receptor and its gene polymorphism are important components of the biological effect of vitamin D in human body. This article reviews the researches on serum vitamin D level, vitamin D receptor gene polymorphism and children's respiratory, immune and other systems, as well as children's growth, development, metabolism and other related diseases at home and abroad in recent years, in order to provide reference for further researches on vitamin D and its receptor gene polymorphism in children's diseases, as well as and the prevention and treatment of diseases.

Key words: vitamin D, vitamin D receptor gene, polymorphism, childhood diseases

中图分类号:

崔一帆, 肖绪武. 维生素D及其受体基因多态性与儿童疾病的相关性[J]. 中国儿童保健杂志, 2023, 31(10): 1111-1115.

CUI Yifan, XIAO Xuwu. Association of vitamin D and its receptor gene polymorphisms with childhood diseases[J]. Chinese Journal of Child Health Care, 2023, 31(10): 1111-1115.

参考文献

[1] Hossein-nezhad A, Holick MF. Vitamin D for health:A global perspective[J]. Mayo Clin Proc,2013,88(7):720-755.
[2] Long MD, Sucheston-Campbell LE,Campbell MJ.Vitamin D receptor and RXR in the post-genomic era[J]. J Cell Physiol,2015, 230(4):758-766.
[3] Jolliffe DA,Walton RT,Griffiths CJ,et al.Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes:Review of enetic association studies[J]. J Steroid Biochem,2016,164:18-29.
[4] Ruiz-Ojeda FJ,Anguita-Ruiz A,Leis R,et al.Genetic factors and molecular mechanisms of vitamin D and obesity relationship[J]. Ann Nutr Metab, 2018,73(2):89-99.
[5] Tantawy M,Amer M,Raafat T,et al.Vitamin D receptor gene polymorphism in Egyptian pediatric acute lymphoblastic leukemia correlation with BMD[J].Meta Gene,2016,9:42-46.
[6] Hajj A,Chedid R,Chouery E,et al.Relationship between vitamin D receptor gene polymorphisms, cardiovascular risk factors and adiponectin in a healthy young population[J].Pharmacogenomics,2016,17(15):1675-1686.
[7] Usategui-Martín R,De Luis-Román DA,Fernández-Gómez JM,et al.Vitamin D receptor (VDR) gene polymorphisms modify the response to vitamin D supplementation:A systematic review and Meta-analysis[J].Nutrients,2022,14 (2):360.
[8] Tatiana K, Elena G, Olga B, et al. Relationship between vitamin D status and vitamin D receptor gene polymorphisms with markers of metabolic syndrome among adults[J]. Front Endocrinol, 2018, 9:448.
[9] Morrison NA,Qi JC,Tokita A,et al.Prediction of bone density from vitamin D receptor alleles[J].Nature,1994,367(6460):284-287.
[10] Montazeri-Najafabady N,Dabbaghmanesh MH,Amiri RM,et al. Association of vitamin D receptor Bsm I gene polymorphism with BMD Z-Score in Iranian children and adolescents (9- 18 years old)[J]. Int J Endocrinol Met, 2019, 17(2):e82677.
[11] 莫少伟,黄晓燕,林师静.海口地区0～6岁儿童25羟维生素D水平及维生素D受体基因多态性与骨密度关联性分析[J].华南预防医学,2022,48(4):403-406,411.
Mo SW,Huang XY,Lin SJ. Investigation of 25-hydroxyvitamin D levels in children aged 0 - 6 years in Haikou and the relationship between vitamin D receptor gene polymorphism and bone mineral density[J]. South China J Prev Med, 2022,48(4):403-406,411.(in Chinese)
[12] 于静,王锋,孙岩,等.青春期前特发性矮小症患儿临床特征与维生素D受体Bms I基因多态性的关系[J].儿科药学杂志,2022,28(6):38-42.
Yu J,Wang F,Sun Y,et al. Correlation between clinical characteristics and vitamin D receptor bms I gene polymorphism in preadolescent vhildren with idiopathic short stature[J].Journal of Pedoatric Pharmacy,2022,28(6):38-42.(in Chinese)
[13] 蔡丽霞. 维生素D受体基因多态性与特发性矮小患儿重组人生长激素疗效的关系[D].郑州:郑州大学,2015.
Cai LX. The relationship between vitamin D receptor polymorphisms and the efficacy of rhGH treatment in children with idiopathic short stature[D]. Zhengzhou:Zhengzhou University,2015.(in Chinese)
[14] Bereket A,Cesur Y,Özkan B,et al. Circulating insulin-like growth factor binding protein-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo:Evidence from children with rickets[J]. J Clin Res Pediatr E, 2010, 2(1):17-20.
[15] Song Y,Kato S,Fleet JC. Vitamin D receptor (VDR) knockout mice reveal VDR-independent regulation of intestinal calcium absorption and ECaC2 and calbindin D9k mRNA[J]. J Nutr,2003,133(2):374-380.
[16] Pfeffer PE, Hawrylowicz, CM. Vitamin D in asthma:Mechanisms of action and considerations for clinical trials[J]. Chest 2018,153(5):1229-1239.
[17] Santos HLBS, Silva SSE, Paula E,et al. Vitamin D receptor gene mutations and vitamin D serum levels in asthmatic children[J]. Rev Paul Pediatr, 2018,36(3):269-274.
[18] Bossé Y, Hudson TJ. Toward a comprehensive set of asthma susceptibility genes[J]. Annu Rev Med, 2007,58:171184.
[19] Kilic M, Ecin S,Taskin E, et al. The vitamin D receptor gene polymorphisms in asthmatic children:A case-control study[J].Pediat Aller Imm Pul,2019, 32(2):63-69.
[20] 于永锋,李堂.维生素D、维生素D结合蛋白及维生素D受体和儿童哮喘的关系[J].国际儿科学杂志,2015,42(4):439-442.
Yu YF,Li T. Relationship between vitamin D,VDBP,VDR and asthma in children[J]. Int J Pediatr, 2015,42(4):439-442.(in Chinese)
[21] 莫丽亚,邓永超,黄彩芝,等.维生素D受体基因多态性与儿童哮喘相关性研究[J].中国儿童保健杂志,2015,23(7):742-744.
Mo LY,Deng YC,Huang CJ,et al.Association between polymorphisms of vitamin D receptor genes and asthma in children[J].Chin J Child Health Care,2015, 23(7):742-744.(in Chinese)
[22] Himes BE,Koziol-White C, Johnson M,et al. Vitamin D modulates expression of the airway smooth muscle transcriptome in Fatal Asthma[J]. PLoS One, 2015, 10(7):e0134057.
[23] Dehbokri N,Noorazar G, Ghaffari A, et al. Effect of vitamin D treatment in children with attention-defcit hyperactivity disorder[J].World J Pediatr,2019,15(1):78-84.
[24] Hemamy M, Pahlavani N,Amanollahi A, et al. The effect of vitamin D and magnesium supplementation on the mental health status of attention-deficit hyperactive children:A randomized controlled trial[J].Bmc Pediatr,2021,21(1):178.
[25] Saedisomeolia A, Samadi M, Gholami F, et al. Vitamin D's molecular action mechanism in attention-deficit/hyperactivity disorder:A review of evidence[J]. Cns Neurol Disorder,2018,17(4):280-290.
[26] Cannell JJ. Autism and vitamin D[J]. Med Hypotheses, 2008,70(4):750-759.
[27] Chtourou M, Naifar M, Grayaa S, et al. Vitamin D status in TUNISIAN children with autism spectrum disorders[J]. Clinica Chimica Acta, 2019,493(Suppl):619-620.
[28] Bent S, Ailarov A, Dang KT, et al. Open-label trial of vitamin D3 supplementation in children with autism spectrum disorder[J]. J Altern Complem Med, 2017,23(5):394-395.
[29] 段小燕. 维生素D治疗儿童孤独症谱系障碍的初步研究[D].长春:吉林大学,2015.
Duan XY. Rudimental research into effects of vitamin D on children with autism spectrum disorder[D].Changchun:Jilin University,2015.(in Chinese)
[30] Yang H,Wu X.The correlation between vitamin D receptor (VDR) gene polymorphisms and autism:A Meta-analysis[J].J Mol Neurosci,2020, 70(2):260-268.
[31] Guerini FR, Bolognesi E, Chiappedi M,et al.Vitamin D receptor polymorphisms associated with autism spectrum disorder[J]. Autism Res,2020,13(5):680-690.
[32] Karuwanarint P,Phonrat B,Tungtrongchitr A,et al. Genetic variations of vitamin D receptor gene in metabolic syndrome and related diseases in the Thai population[J]. Asia Pac J Clin Nutr,2018,27(4):935-944.
[33] Santos BR,Leccke SB,Spritzer PM, et al.Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome:A cross-sectional study[J].Reprod Biol Endocrinol,2018,16(1):38.
[34] Xie H,Min M,Guo S, et al. Impact of vitamin D and vitamin D receptor on risk of cardiovascular diseases in children and adolescents with obesity in Sichuan, China:A cross-sectional study[J]. Ann Nutr Metab, 2020, 76(6):396-404.
[35] Wang D, Su K,Ding Z,et al. Association of vitamin D receptor gene polymorphisms with metabolic syndrome in Chinese children[J]. Int J Gen Med,2021,14:57-66.
[36] Habibian N,Amoli MM, Abbasi F,et al. Role of vitamin D and vitamin D receptor gene polymorphisms on residual beta cell function in children with type 1 diabetes mellitus[J]. Pharmacol Rep,2019,71(2):282-288.
[37] Xiang W,Kong J,Chen S,et al. Cardiac hypertrophy in vitamin D receptor knockout mice:Role of the systemic and cardiac renin-angiotensin systems[J]. Am J Physiol Endoc M, 2005, 288(1):125-132.
[38] Imam AA, Ibrahim HE, Maa F,et al. Vitamin D receptor gene FokI polymorphism in Egyptian children and adolescents with SLE:A case-control study[J]. Lupus, 2017, 26(13):1426-1434.
[39] 罗优优,舒小莉,赵泓,等.DNA测序研究维生素D受体基因多态性与儿童克罗恩病相关性[J].中国当代儿科杂志,2013,15(11):1006-1008.
Luo YY,Shu XL,Zhao H,et al. Association between vitamin D receptor gene polymorphisms and pediatric Crohn's disease in China:A study based on gene sequencing[J].Chin J Contemp Pediatr, 2013,15(11):1006-1008.(in Chinese)
[40] White JH. Vitamin D deficiency and the pathogenesis of Crohn's disease[J]. J Steroid Biochem, 2018, 175:23-28.
[41] Wang TT,Dabbas B,Laperriere D,et al. Direct and Indirect Induction by 1, 25-Dihydroxyvitamin D3 of the NOD2/CARD15-defensin β2 innate immune pathway defective in Crohn disease[J]. J Biol Chem,2010, 285(4):2227-2231.
[42] White JH. Vitamin D deficiency and the pathogenesis of Crohn's disease[J]. J Steroid Biochem,2018, 175:23-28.