Study on receptor gene polymorphism and detection method of vitamin D

YOU Chunhua; XIONG Xiaojuan; WANG Qinghua; CHEN Wansheng; GAO Shouhong

doi:10.3969/j.issn.1006-0111.2014.05.003

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Volume 32 Issue 5

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Article Navigation > Journal of Pharmaceutical Practice and Service > 2014 > 32(5): 329-331,392

YOU Chunhua, XIONG Xiaojuan, WANG Qinghua, CHEN Wansheng, GAO Shouhong. Study on receptor gene polymorphism and detection method of vitamin D[J]. Journal of Pharmaceutical Practice and Service, 2014, 32(5): 329-331,392. doi: 10.3969/j.issn.1006-0111.2014.05.003

Citation:

YOU Chunhua, XIONG Xiaojuan, WANG Qinghua, CHEN Wansheng, GAO Shouhong. Study on receptor gene polymorphism and detection method of vitamin D[J]. Journal of Pharmaceutical Practice and Service, 2014, 32(5): 329-331,392. doi: 10.3969/j.issn.1006-0111.2014.05.003

Study on receptor gene polymorphism and detection method of vitamin D

doi: 10.3969/j.issn.1006-0111.2014.05.003

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

Received Date: 2013-12-20
Rev Recd Date: 2014-04-26

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

References

[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.

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通讯作者: 陈斌, bchen63@163.com

1.
沈阳化工大学材料科学与工程学院沈阳 110142

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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

Received Date: 2013-12-20

Rev Recd Date: 2014-04-26

Key words:

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.

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Reference (30)

[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.

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Study on receptor gene polymorphism and detection method of vitamin D

doi: 10.3969/j.issn.1006-0111.2014.05.003

Abstract

References

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通讯作者: 陈斌, bchen63@163.com

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