维生素D受体基因的多态性与检测方法

游春华; 熊筱娟; 王清华; 陈万生; 高守红

doi:10.3969/j.issn.1006-0111.2014.05.003

维生素D受体基因的多态性与检测方法

doi: 10.3969/j.issn.1006-0111.2014.05.003

1.
第二军医大学附属长征医院药学部, 上海 200003;宜春学院化学与生物工程学院, 江西宜春 336000
2.
宜春学院化学与生物工程学院, 江西宜春 336000
3.
第二军医大学附属长征医院药学部, 上海 200003

Study on receptor gene polymorphism and detection method of vitamin D

1.
Department of Pharmacy, Changzheng Hospital Affiliated to Second Military Medical University, Shanghai 200433, China;Yichun University, College of Chemistry and Bio-engineering, Yichun 336000, China
2.
Yichun University, College of Chemistry and Bio-engineering, Yichun 336000, China
3.
Department of Pharmacy, Changzheng Hospital Affiliated to Second Military Medical University, Shanghai 200433, China

摘要: 近年研究发现,维生素D缺乏除与骨软化相关外,还与高血压、糖尿病、代谢综合征等多种疾病相关。维生素D在体内经肝脏和肾脏两次羟基化后作用于其受体而发挥生理作用。笔者通过查阅国内外相关文献,介绍维生素D与疾病的关系及维生素 D受体基因多态性研究现状,阐述检测维生素D常用方法的优缺点,提出检测维生素D的最佳方法及其受体基因多态性检测的重要性,从而指导临床医生合理用药。
- 维生素D /
- 基因多态性 /
- 维生素D受体 /
- 合理用药
Abstract: In recent years, many studies have found that vitamin D insufficiency is associated with osteomalacia, hypertension, diabetes, metabolic syndrome and other diseases. Vitamin D must be hydroxylated in the liver by a 25-hydroxylase for the first time, and then in the kidney by a 1α-hydroxylase for the second time to form the active metabolite 1, 25-dihydroxy vitamin D, which binds to the intracellular vitamin D receptor and exerts its effects. This paper reviewed the relationship between vitamin D and disease, present research situation of gene polymorphism of vitamin D receptor, and the advantages and limitations of several methods of vitamin D detection, and proposed the best method for detecting vitamin D receptor gene polymorphism and the importance of the detection state to guide clinicians to use drug rationally.
- vitamin D /
- gene polymorphism /
- vitamin D receptor /
- rational drug use

[1]	Jungert A, Neuhäuser-Berthold M. Dietary vitamin D intake is not associated with 25-hydroxyvitamin D₃ or parathyroid hormone in elderly subjects,whereas the calcium-to-phosphate ratio affects parathyroid hormone[J]. Nutr Res, 2013,(33):661-667.
[2]	Chiu YE, Havens PL,Siegel DH, et al. Serum 25-hydroxyvitamin D concentration does not correlate with atopic dermatitis severity[J]. J AM ACAD Dermatol, 2013,69(1):40-46.
[3]	Souberielle JC, Body JJ, Lappe JM, et al. Vitamin D and musculoskeletal health, cardiovascular disease, autoimmunity and cancer:recommendations for clinical practice[J]. Autoimm Rev, 2010,(9):709-715.
[4]	毕晓娜,衣明纪. 维生素D缺乏与临床疾病[J]. 青岛大学医学院学报,2011,47(3):280-282.
[5]	Holick MF, Binkley NC, Bischoff-Ferrari HA, et al. Evaluation, treatment, and prevention of vitamin D deficiency:an endocrine society clinical practice guideline[J]. J Clin Endocrinol Metab, 2011,96(7):1911-1930.
[6]	Ji GR, Yao M, Sun CY, et al.BsmI, TaqI, ApaI and FokI polymorphisms in the vitamin D receptor (VDR) gene and risk of fracture in caucasians:a meta-analysis[J]. Bone, 2010,(47):681-686.
[7]	Diego G, Barbara A, Francisco PB, et al. VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile[J]. Diabetes Res Clin Pract, 2007,77(1):134-140.
[8]	Zhang H, Wang JW, Yi B, et al. BsmI polymorphisms in vitamin D receptor gene are associated with diabetic nephropathy in type 2 diabetes in the Han Chinese population[J]. Gene, 2012,(495):183-188.
[9]	Sara Panizo G, Eva Parisi C, Jose Manuel Valdivielso R, et al.Vitamin D receptor gene polymorphisms in persons with Down's syndrome[J]. International Medical Journal on Down Syndrome, 2006, 10(1):2-7.
[10]	Saito M, Eiraku N, Usuku K, et al. ApaI polymorphism of vitamin D receptor gene is associated with susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in HTLV-1 infected individuals[J]. J Neurol Sci, 2005,(232):29-35.
[11]	Wehr E, Trummer O, Giuliani, et al. Vitamin D-associated polymorphisms are related to insulin resistance and vitamin D deficiency in polycystic ovary syndrome[J]. Eur J Endocrinol, 2011,(164):741-749.
[12]	Yiannis V, Theologia S, Maria P, et al.VDR TaqI is associated with obesity in the Greek population[J]. Gene, 2013,(513):237-239.
[13]	Martelli FS, Mengoni A, Rosati C, et al. VDR TaqI polymorphism is associated with chronic periodontitis in Italian population[J]. Arch Oral Biol, 2011,(56):1494-1498.
[14]	Syed S, Iqbal Q, Zafar AS, et al. Role of vitamin D receptor (VDR) polymorphisms in susceptibility to multiplemyeloma in ethnic Kashmiri population[J]. Blood Cells, Mol Dis, 2013,(51):56-60.
[15]	于媛, 王宓, 王梅. 慢性肾脏病3~5期非透析患者25(OH)D与1,25(OH)2D水平的相关性及影响因素[J]. 中国血液净化, 2011, 10(6):310-314.
[16]	沈波, 张立元, 邹建,等. 血液透析患者血清25-羟维生素D[25(OH)D]水平及相关因素研究[J]. 复旦学报, 2012, 39(2):135-140.
[17]	闫永杰.电化学发光法与放射免疫法检测血清甲状腺素的方法学比较[J]. 中国医学装备,2013,10(5):88-90.
[18]	谷丽娟, 刘健萍. 2型糖尿病肾病患者血清1, 25-二羟维生素D₃与肾功能指标的相关性研究[J]. 山东医药, 2012,52(33):15-17.
[19]	闻萍, 叶红, 武晓春,等. 维持性血液透析患者维生素D缺乏的调查[J]. 肾脏病与透析肾移植杂志, 2012, 21(2):139-144.
[20]	李芬,辛克明,邢昌赢. 维生素D缺乏与维持性血液透析患者心脏功能的关[J]. 江苏医药,2011,37(21):2524-2526.
[21]	李水军, 周建烈, 余琛,等. 维生素D代谢及25-羟基维生素D测定方法研究进展[J]. 国际检验医学杂志, 2012, 33(24):3028-3029.
[22]	单咏梅,杨凡,万海英.LIAISON全自动化学发光仪测定25-羟基维生素D分析性能评估[J]. 国际检验医学杂志,2012,33(10):1252-1253.
[23]	Leino A, Turpeinen U, Koskinen P. Automated measurement of 25-OH vitamin D₃ on the Roche Modular E170 Analyzer[J]. Clin Chem, 2008,54(12):2059-2062.
[24]	Clarke MW, Tuckey RC, Gorman S, et al. Optimized 25-hydroxyvitamin D analysis using liquid-lipuid extraction with 2D separation with LC/MS/MS detection, provides superior precision compared to conventional assays[J]. Metabolomics, 2013,(9):1031-1040.
[25]	Higashi T, Shibayama Y, Fuji M, et al.Liquid chromatography-tandem mass spectrometric method for the determination of salivary 25-hydroxyvitamin D3:a noninvasive tool for the assessment of vitamin D status[J]. Anal Bioanal Chem, 2008, 391(1):229-238.
[26]	Mochizuki A, Kodera Y, Saito T, et al. Preanalytical evaluation of serum 25-hydroxyvitamin D3 and 25-hydroxyvtamin D2 measurements using LC-MS/MS[J]. Clin Chim Acta, 2013,(420):114-120.
[27]	Guo T, Taylor RL, Singh RJ, et al.Simultaneous determination of 12 steroids by isotope dilution liquid chromatography-photospray ionization tandem mass spectrometry[J]. Clin Chim Acta, 2006, 372(1-2):76-82.
[28]	郭辉. 化学发光免疫分析法与酶联免疫法测定乙肝病毒标志物的相关性分析[J]. 中国伤残医学, 2013, 21(5):270-271.
[29]	毛茅, 钱晓萍. 免疫分析法在体内药物分析中的应用[J]. 海峡药学, 2007, 19(7):93-96.
[30]	Couchman L, Benton CM, Moniz CF. Variability in the analysis of 25-hydroxyvitamin D by liquid chromatography-tandem mass spectrometry:the devil is in the detail[J]. Clin Chim Acta, 2012(413):1239-1243.

[1]	石晓萍, 吕迁洲, 李晓宇, 许青. 泊沙康唑对比伏立康唑经验治疗或诊断驱动治疗免疫功能低下患者侵袭性霉菌病的成本-效果分析 . 药学实践与服务, 2024, 42(): 1-8. doi: 10.12206/j.issn.2097-2024.202401050
[2]	杨嘉宁, 赵一颖, 肖伟. 七味脂肝方对非酒精性脂肪性肝炎动物模型的药效学评价 . 药学实践与服务, 2024, 42(9): 389-398. doi: 10.12206/j.issn.2097-2024.202404096
[3]	迟文雅, 袁艳, 李伟林, 吴茼妤, 俞媛. 负载骨髓间充质干细胞/白藜芦醇脂质体的水凝胶支架用于创伤性脑损伤治疗 . 药学实践与服务, 2024, 42(): 1-8. doi: 10.12206/j.issn.2097-2024.202406034
[4]	戴菲菲, 傅翔, 陈琼年, 俞苏纯. 上海某二级医院革兰阴性菌流行特征的回顾性分析 . 药学实践与服务, 2024, 42(): 1-5. doi: 10.12206/j.issn.2097-2024.202305005
[5]	唐淑慧, 凤美娟, 薛智霞, 鲁桂华. 帕博利珠单抗治疗所致免疫相关不良反应与中医体质的相关性研究 . 药学实践与服务, 2024, 42(5): 217-222. doi: 10.12206/j.issn.2097-2024.202311029
[6]	孙丹倪, 黄勇, 张嘉宝, 王培. 代谢相关脂肪性肝病的无创诊断与药物治疗 . 药学实践与服务, 2024, 42(10): 411-418. doi: 10.12206/j.issn.2097-2024.202403049
[7]	王耀振, 徐灿, 吕顺莉, 田泾, 张东炜. 钾离子竞争性酸阻滞剂的药学特征研究进展 . 药学实践与服务, 2024, 42(7): 278-284. doi: 10.12206/j.issn.2097-2024.202306040
[8]	张晶晶, 索丽娜, 郑兆红. 89例细菌性肝脓肿的临床特征及抗感染治疗分析 . 药学实践与服务, 2024, 42(6): 267-272. doi: 10.12206/j.issn.2097-2024.202302039
[9]	徐璐璐, 刘爱军. 丹参白术方“异病同治”冠心病、血管性痴呆、特发性膜性肾病的网络药理学作用机制研究 . 药学实践与服务, 2024, 42(12): 1-8. doi: 10.12206/j.issn.2097-2024.202312027
[10]	刘丽艳, 余小翠, 孙传铎. 纳武利尤单抗治疗非小细胞肺癌有效性及安全性的Meta分析 . 药学实践与服务, 2024, 42(10): 451-456. doi: 10.12206/j.issn.2097-2024.202310044
[11]	张艺昕, 关欣怡, 王博宁, 闻俊, 洪战英. 二氢吡啶类钙离子拮抗药物手性分析及其立体选择性药动学研究进展 . 药学实践与服务, 2024, 42(8): 319-324. doi: 10.12206/j.issn.2097-2024.202308062
[12]	黄韵, 张正银, 金英, 郑怡菁, 李铁军, 孙莉莉. 耐碳青霉烯类肺炎克雷伯菌及大肠埃希菌临床分离株耐药性及耐药基因分析 . 药学实践与服务, 2024, 42(10): 439-444. doi: 10.12206/j.issn.2097-2024.202309059
[13]	王雪莲, 郑斯莉, 李志勇, 罗亨宇, 缪朝玉. 全身过表达人METRNL基因小鼠模型的构建与验证 . 药学实践与服务, 2024, 42(5): 198-202, 222. doi: 10.12206/j.issn.2097-2024.202311014
[14]	姚瑞阳, 于海征, 李耀盺, 张磊. 丹参FBXL 基因家族的鉴定和表达模式分析 . 药学实践与服务, 2024, 42(11): 461-470. doi: 10.12206/j.issn.2097-2024.202407034
[15]	丁千雪, 尚圣兰, 余梦辰, 余爱荣. 机器学习在肾病综合征患者他克莫司个体化用药中的应用 . 药学实践与服务, 2024, 42(6): 227-230, 243. doi: 10.12206/j.issn.2097-2024.202310007
[16]	陈怡君, 王卓, 何苗, 张宇, 田泾. 泌尿系统碎石术抗菌药物预防使用合理管控实践 . 药学实践与服务, 2024, 42(): 1-5. doi: 10.12206/j.issn.2097-2024.202402034
[17]	桂明珠, 李静, 李志玲. 儿童伏立康唑的血药浓度与CYP2C19、CYP2C9和CYP3A5基因多态性的相关性研究 . 药学实践与服务, 2024, 42(): 1-5. doi: 10.12206/j.issn.2097-2024.202402020
[18]	宋红卫, 王燕, 方铭, 马云鹏, 钟超, 徐一新, 徐峰, 周婷. 2021−2023年我院药品不良反应的特点分析 . 药学实践与服务, 2024, 42(): 1-6. doi: 10.12206/j.issn.2097-2024.202404041
[19]	杨彬, 王作君, 陈菡, 张敬一. 基于DRGs的医院合理用药管理机制探索实践 . 药学实践与服务, 2024, 42(): 1-5. doi: 10.12206/j.issn.2097-2024.202404030

点击查看大图

计量

文章访问数: 3287
HTML全文浏览量: 482
PDF下载量: 432
被引次数: 0

姓名
邮箱
手机号码
标题
留言内容
验证码

留言板

维生素D受体基因的多态性与检测方法

doi: 10.3969/j.issn.1006-0111.2014.05.003

Study on receptor gene polymorphism and detection method of vitamin D

计量

维生素D受体基因的多态性与检测方法

doi: 10.3969/j.issn.1006-0111.2014.05.003

1. 第二军医大学附属长征医院药学部, 上海 200003;宜春学院化学与生物工程学院, 江西宜春 336000

2. 宜春学院化学与生物工程学院, 江西宜春 336000

3. 第二军医大学附属长征医院药学部, 上海 200003

English Abstract

Study on receptor gene polymorphism and detection method of vitamin D

全文HTML

目录

留言板

维生素D受体基因的多态性与检测方法

doi: 10.3969/j.issn.1006-0111.2014.05.003

Study on receptor gene polymorphism and detection method of vitamin D

计量

出版历程

维生素D受体基因的多态性与检测方法

doi: 10.3969/j.issn.1006-0111.2014.05.003

1. 第二军医大学附属长征医院药学部, 上海 200003;宜春学院化学与生物工程学院, 江西 宜春 336000 2. 宜春学院化学与生物工程学院, 江西 宜春 336000 3. 第二军医大学附属长征医院药学部, 上海 200003

English Abstract

Study on receptor gene polymorphism and detection method of vitamin D

全文HTML

目录

1. 第二军医大学附属长征医院药学部, 上海 200003;宜春学院化学与生物工程学院, 江西宜春 336000

2. 宜春学院化学与生物工程学院, 江西宜春 336000

3. 第二军医大学附属长征医院药学部, 上海 200003