Vitamin D in health and disease: a literature review

References

• Pedersen JI. Vitamin D requirement and setting recommendation levels — current Nordic view. Nutr Rev 2008; 66: S165–9.
   Google Scholar
• Mosekilde L. Vitamin D requirement and setting recommendation levels: long-term perspectives. Nutr Rev 2008; 66: S170–7.
   Google Scholar
• Mehta RG, Peng X, Alimirah F, Murillo G, Mehta R. Vitamin D and breast cancer: emerging concepts. Cancer Lett 2012; 12: 639–8.
   Google Scholar
• Welsh J. Vitamin D and cancer: integration of cellular biology, molecular mechanisms and animal models. Scand J Clin Lab Invest Suppl 2012; 243: 103–11.
   Google Scholar
• Cooke NE, Haddad JG. Vitamin D binding protein (Gcglobulin). Endocr Rev 1989; 10: 294–307
   Google Scholar
• Bikle DD, Gee E, Halloran B, Haddad JG. Free 1, 25-dihydroxyvitamin D levels in serum from normal subjects, pregnant subjects, and subjects with liver disease. J Clin Invest 1984; 74: 1966–71.
   Google Scholar
• Bikle DD, Siiteri PK, Ryzen E, Haddad JG. Serum protein binding of 1, 25-dihydroxyvitamin D: a reevaluation by direct measurement of free metabolite levels. J Clin Endocrinol Metab 1985; 61: 969–75.
   Google Scholar
• Haddad JG, Matsuoka LY, Hollis BW, Hu YZ, Wortsman J. Human plasma transport of vitamin D after its endogenous synthesis. J Clin Invest 1993; 91: 2552–5.
   Google Scholar
• Haddad JG. Plasma vitamin D-binding protein (Gc-globulin): multiple tasks. J Steroid Biochem Mol Biol 1995; 53: 579–82.
   Google Scholar
• Cheng JB, Motola DL, Mangelsdorf DJ, Russell DW. De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase. J Biol Chem 2003; 278: 38084–93.
   Google Scholar
• Ohyama Y, Yamasaki T. Eight cytochrome P450s catalyze vitamin D metabolism. Front Biosci 2004; 9: 3007–18.
   Google Scholar
• Strushkevich N, Usanov SA, Plotnikov AN, Jones G, Park HW. Structural analysis of CYP2R1 in complex with vitamin D3. J Mol Biol 2008; 380: 95–106.
   Google Scholar
• Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci USA 2004; 101: 7711–5.
   Google Scholar
• St-Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res 1997; 12: 1552–9.
   Google Scholar
• Zehnder D, Bland R, Williams MC et al. Extrarenal expression of 25-hydroxyvitamin d3–1 alpha-hydroxylase. J Clin Endocrinol Metab 2001; 86: 888–94.
   Google Scholar
• Flanagan JN, Wang L, Tangpricha V, Reichrath J, Chen TC, Holick MF. Regulation of the 25-hydroxyvitamin D-1alpha-hydroxylase gene and its splice variant. Recent Results Cancer Res 2003; 164: 157–67.
   Google Scholar
• Wang L, Whitlatch LW, Flanagan JN, Holick MF, Chen TC. Vitamin D autocrine system and prostate cancer. Recent Results Cancer Res 2003; 164: 223–7.
   Google Scholar
• Fritsche J, Mondal K, Ehrnsperger A, Andreesen R, Kreutz M. Regulation of 25-hydroxyvitamin D3-1alpha-hydroxylase and production of 1alpha,25-dihydroxyvitamin D3 by human dendritic cells. Blood 2003; 102: 3314–6
   Google Scholar
• DeLuca HF. Overview of general physiologic features and functions of vitamin D. Am J Clin Nutr 2004; 80: 1689S-96S.
   Google Scholar
• Kogawa M, Findlay DM, Anderson PH et al. Osteoclastic metabolism of 25(OH)-vitamin D3: a potential mechanism for optimization of bone resorption. Endocrinology 2010; 151: 4613–25
   Google Scholar
• Panda DK, Miao D, Tremblay ML et al. Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc Natl Acad Sci USA 2001; 98: 7498–503.
   Google Scholar
• Dardenne O, Prud’homme J, Arabian A, Glorieux FH, St-Arnaud R. Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. Endocrinology 2001; 142: 3135–41.
   Google Scholar
• Kawashima H, Torikai S, Kurokawa K. Localization of 25-hydroxyvitamin D3 1alpha-hydroxylase and 24-hydroxylase along the rat nephron. Proc Natl Acad Sci USA 1981; 78: 1199–203.
   Google Scholar
• Zierold C, Darwish HM, DeLuca HF. Identification of a vitamin D-response element in the rat calcidiol (25-hydroxyvitamin D3) 24-hydroxylase gene. Proc Natl Acad Sci USA 1994; 91: 900–2.
   Google Scholar
• Zehnder D, Bland R, Walker EA et al. Expression of 25-hydroxyvitamin D3-1alpha-hydroxylase in the human kidney. J Am Soc Nephrol 1999; 10: 2465–73.
   Google Scholar
• Makin G, Lohnes D, Byford V, Ray R, Jones G. Target cell metabolism of 1, 25-dihydroxyvitamin D3 to calcitroic acid. Evidence for a pathway in kidney and bone involving 24-oxidation. Biochem J 1989; 262: 173–80.
   Google Scholar
• Reddy GS, Tserng KY. Calcitroic acid, end product of renal metabolism of 1, 25-dihydroxyvitamin D3 through C-24 oxidation pathway. Biochemistry 1989; 28: 1763–9.
   Google Scholar
• St-Arnaud R. Novel findings about 24, 25-dihydroxyvitamin D: an active metabolite? Curr Opin Nephrol Hypertens 1999; 8: 435–41.
   Google Scholar
• Holick MF. Vitamin D deficiency. N Engl J Med 2007; 357: 266–81.
   Google Scholar
• Jenster G, Spencer TE, Burcin MM, Tsai SY, Tsai MJ, O’Malley BW. Steroid receptor induction of gene transcription: a two-step model. Proc Natl Acad Sci USA 1997; 94: 7879–84.
   Google Scholar
• Bouillon R, Carmeliet G, Verlinden L et al. Vitamin D and human health: lessons from vitamin D receptor null mice. Endocr Rev 2008; 29: 726–76.
   Google Scholar
• Haussler MR, Whitfield GK, Haussler CA et al. The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 1998; 13: 325–49.
   Google Scholar
• Norman AW. Mini review: vitamin D receptor: new assignments for an already busy receptor. Endocrinology 2006; 147: 5542–8.
   Google Scholar
• Freedman LP, Arce V, Perez Fernandez R. DNA sequences that act as high affinity targets for the vitamin D3 receptor in the absence of the retinoid X receptor. Mol Endocrinol 1994; 8: 265–73.
   Google Scholar
• Jones G, Strugnell SA, DeLuca HF. Current understanding of the molecular actions of vitamin D. Physiol Rev 1998; 78: 1193–231.
   Google Scholar
• Smolders J, Peelen E, Thewissen M et al. The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis. Autoimmun Rev 2009; 8: 621–6.
   Google Scholar
• Dowd DR, MacDonald PN. The 1, 25-dihydroxyvitamin D3-independent actions of the vitamin D receptor in skin. J Steroid Biochem Mol Biol 2010; 121: 317–21.
   Google Scholar
• Zella LA, Meyer MB, Nerenz RD, Lee SM, Martowicz ML, Pike JW. Multifunctional enhancers regulate mouse and human vitamin D receptor gene transcription. Mol Endocrinol 2010; 24: 128–47.
   Google Scholar
• Omdahl JL, Bobrovnikova EA, Choe S, Dwivedi PP, May BK. Overview of regulatory cytochrome P450 enzymes of the vitamin D pathway. Steroids 2001; 66: 381–9.
   Google Scholar
• Carlberg C, Polly P. Gene regulation by vitamin D 3. Crit Rev Eukaryot Gene Expr 1998; 8: 19–42.
   Google Scholar
• Shaffer PL, Gewirth DT. Structural basis of VDR-DNA interactions on direct repeat response elements. EMBO J 2002; 21: 2242–52.
   Google Scholar
• Rochel N, Wurtz JM, Mitschler A, Klaholz B, Moras D. The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand. Mol Cell 2000; 5: 173–9.
   Google Scholar
• Glass CK, Rosenfeld MG. The coregulator exchange in transcriptional functions of nuclear receptors. Genes Dev 2000; 14: 121–41.
   Google Scholar
• Polly P, Herdick M, Moehren U, Baniahmad A, Heinzel T, C arlberg C. VDR-Alien: a novel, DNA-selective vitamin D 3 receptor-corepressor partnership. FASEB J 2000; 14: 1455–63.
   Google Scholar
• Leo C, Chen JD. The SRC family of nuclear receptor coactivators. Gene 2000; 245: 1–11
   Google Scholar
• Kwok RP, Lundblad JR, Chrivia JC et al. Nuclear protein CBP is a coactivator for the transcription factor CREB. Nature 1994; 370: 223–6
   Google Scholar
• Castillo AI, Jimenez-Lara AM, Tolon RM, Aranda A. Synergistic activation of the prolactin promoter by vitamin D receptor and GHF-1: role of coactivators, CREB-binding protein and steroid hormone receptor coactivator-1 (SRC-1). Mol Endocrinol 1999; 13: 1141–54
   Google Scholar
• Rachez C , Suldan Z , Ward J et al. A novel protein complex that interacts with the vitamin D 3 receptor in a ligand-dependent manner and enhances transactivation in a cell-free system. Genes Dev 1998; 12: 1787–800.
   Google Scholar
• Rachez C, Lemon BD, Suldan Z et al. Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex. Nature 1999; 398: 824–8.
   Google Scholar
• Ross AC, Manson JE, Abrams SA et al. Clarification of DRIs for calcium and vitamin D across age groups. J Am Diet Assoc 2011; 111: 1467.
   Google Scholar
• Holick MF, Binkley NC, Bischoff-Ferrari HA et al.; Endocrine Society. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2011; 96: 1911–30.
   Google Scholar
• Bischoff-Ferrari HA, Dietrich T, Orav EJ et al. Higher 25-hydroxyvitamin D concentrations are associated with better lower-extremity function in both active and inactive persons aged > or =60 y. Am J Clin Nutr 2004; 80: 752–8.
   Google Scholar
• Forman JP, Giovannucci E, Holmes MD et al. Plasma 25-hydroxyvitamin D levels and risk of incident hypertension. Hypertension 2007; 49: 1063–9.
   Google Scholar
• Giovannucci E. Epidemiological evidence for vitamin D and colorectal cancer. J Bone Miner Res 2007; 2: V81–5.
   Google Scholar
• Pilz S, Tomaschitz A, Obermayer-Pietsch B, Dobnig H, Pieber TR. Epidemiology of vitamin D insufficiency and cancer mortality. Anticancer Res 2009; 29: 3699–704.
   Google Scholar
• Tylavsky FA, Cheng S, Lyytikainen A, Viljakainen H, Lamberg-Allardt C. Strategies to improve vitamin D status in northern European children: exploring the merits of vitamin D fortification and supplementation. J Nutr 2006; 136: 1130–4.
   Google Scholar
• Burnand B, Sloutskis D, Gianoli F et al. Serum 25-hydroxyvitamin D: distribution and determinants in the Swiss population. Am J Clin Nutr 1992; 56: 537–42.
   Google Scholar
• McKenna MJ. Differences in vitamin D status between countries in young adults and the elderly. Am J Med 1992; 93: 69–77.
   Google Scholar
• Looker AC, Pfeiffer CM, Lacher DA, Schleicher RL, Picciano MF, Yetley EA. Serum 25-hydroxyvitamin D status of the US population: 1988–1994 compared with 2000–2004. Am J Clin Nutr 2008; 88: 1519–27.
   Google Scholar
• van Schoor NM, Lips P. Worldwide vitamin D status. Best Pract Res Clin Endocrinol Metab 2011; 25: 671–80.
   Google Scholar
• van der Wielen RP Lowik MR, van den Berg H et al. Serum vitamin D concentrations among elderly people in Europe. Lancet 1995; 346: 207–10.
   Google Scholar
• Ginde AA, Mansbach JM, Camargo CA Jr. Association between serum 25-hydroxyvitamin D level and upper respiratory tract infection in the Third National Health and Nutrition Examination Survey. Arch Intern Med 2009; 169: 384–90.
   Google Scholar
• Mahdy S, Al-Emadi SA, Khanjar IA et al. Vitamin D status in health care professionals in Qatar. Saudi Med J 2010; 31: 74–7.
   Google Scholar
• Heaney RP. Vitamin D, nutritional deficiency, and the medical paradigm. J Clin Endocrinol Metab 2003; 88: 5107–8.
   Google Scholar
• Heaney RP. The Vitamin D requirement in health and disease. J Steroid Biochem Mol Biol 2005; 97: 13–9.
   Google Scholar
• Sadat-Ali M, Al Elq AH, Al-Turki HA, Al-Mulhim FA, Al-Ali AK. Influence of vitamin D levels on bone mineral density and osteoporosis. Ann Saudi Med 2011; 31: 602–8.
   Google Scholar
• Bodnar LM, Catov JM, Zmuda JM et al. Maternal serum 25-hydroxyvitamin D concentrations are associated with small-for-gestational age births in white women. J Nutr 2010; 140: 999–1006.
   Google Scholar
• Lewis S, Lucas RM, Halliday J et al. Vitamin D deficiency and pregnancy: from preconception to birth. Mol Nutr Food Res 2010; 54: 1092–102.
   Google Scholar
• Nnoaham KE, Clarke A. Low serum vitamin D levels and tuberculosis: a systematic review and meta-analysis. Int J Epidemiol 2008; 37: 113–9.
   Google Scholar
• Chesney RW. Vitamin D and The Magic Mountain: the antiinfectious role of the vitamin. J Pediatr 2010; 156: 698–703.
   Google Scholar
• Zhang HL, Wu J. Role of vitamin D in immune responses and autoimmune diseases, with emphasis on its role in multiple sclerosis. Neurosci Bull 2010; 26: 445–54.
   Google Scholar
• Blaney GP, Albert PJ, Proal AD. Vitamin D metabolites as clinical markers in autoimmune and chronic disease. Eur J Clin Invest 2005; 35: 290–304.
   Google Scholar
• Semba RD, Houston DK, Bandinelli S et al. Relationship of 25-hydroxyvitamin D with all-cause and cardiovascular disease mortality in older community-dwelling adults. Eur J Clin Nutr 2010; 64: 203–9.
   Google Scholar
• Wang L, Manson JE, Song Y et al. Systematic review: vitamin D and calcium supplementation in prevention of cardiovascular events. Ann Intern Med 2010; 152: 315–23.
   Google Scholar
• Drechsler C, Pilz S, Obermayer-Pietsch B et al. Vitamin D deficiency is associated with sudden cardiac death, combined cardiovascular events, and mortality in haemodialysis patients. Eur Heart J 2010; 31: 2253–61.
   Google Scholar
• Pilz S, Tomaschitz A, Drechsler C et al. Vitamin D supplementation: a promising approach for the prevention and treatment of strokes. Curr Drug Targets 2011; 12: 88–96.
   Google Scholar
• Levin AD, Wadhera V, Leach ST et al. Vitamin D deficiency in children with inflammatory bowel disease. Dig Dis Sci 2011; 56: 830–6.
   Google Scholar
• Pfeifer M, Begerow B, Minne HW. Vitamin D and muscle function. Osteoporos Int 2002; 13: 187–94.
   Google Scholar
• Wimalawansa SJ. Vitamin D: Everything You Need to Know. Homagama, Sri Lanka: Karunaratne, 2011.
   Google Scholar
• Hisatake J, O’Kelly J, Uskokovic MR et al. Novel vitamin D(3) analog, 21-(3-methyl-3-hydroxy-butyl)-19-nor D(3), that modulates cell growth, differentiation, apoptosis, cell cycle, and induction of PTEN in leukemic cells. Blood 2001; 97: 2427–33.
   Google Scholar
• Morales-Tirado V, Wichlan DG, Leimig TE et al. 1alpha,25-dihydroxyvitamin D3 (vitamin D3) catalyzes suppressive activity on human natural regulatory T cells, uniquely modulates cell cycle progression, and augments FOXP3. Clin Immunol 2011; 138: 212–21.
   Google Scholar
• Jenab M, Bueno-de-Mesquita HB, Ferrari P et al. Association between pre-diagnostic circulating vitamin D concentration and risk of colorectal cancer in European populations:a nested case-control study. BMJ 2010; 340: b5500.
   Google Scholar
• Karlsson S, Olausson J, Lundh D et al. Vitamin D and prostate cancer: the role of membrane initiated signaling pathways in prostate cancer progression. J Steroid Biochem Mol Biol 2010; 121: 413–6.
   Google Scholar
• Giovannucci E. The epidemiology of vitamin D and cancer incidence and mortality: a review (United States). Cancer Causes Control 2005; 16: 83–95.
   Google Scholar
• Giovannucci E. The epidemiology of vitamin D and colorectal cancer: recent findings. Curr Opin Gastroenterol 2006; 22: 24–9.
   Google Scholar
• Gorham ED, Garland CF, Garland FC et al. Vitamin D and prevention of colorectal cancer. J Steroid Biochem Mol Biol 2005; 97: 179–94.
   Google Scholar
• Grant WB. The likely role of vitamin D from solar ultraviolet-B irradiance in increasing cancer survival. Anticancer Res 2006; 26: 2605–14.
   Google Scholar
• Hypponen E. Vitamin D and increasing incidence of type 1 diabetes-evidence for an association? Diabetes Obes Metab 2010; 12: 737–43
   Google Scholar
• Merlino LA, Curtis J, Mikuls TR, Cerhan JR, Criswell LA, Saag KG; Iowa Women’s Health Study. Vitamin D intake is inversely associated with rheumatoid arthritis: results from the Iowa Women’s Health Study. Arthritis Rheum 2004; 50: 72–7.
   Google Scholar
• Brehm JM, Celedon JC, Soto-Quiros ME et al. Serum vitamin D levels and markers of severity of childhood asthma in Costa Rica. Am J Respir Crit Care Med 2009; 179: 765–71.
   Google Scholar
• Brehm JM, Schuemann B, Fuhlbrigge AL et al.; Childhood Asthma Management Program Research Group. Serum vitamin D levels and severe asthma exacerbations in the Childhood Asthma Management Program study. J Allergy Clin Immunol 2010; 126: 52–8.
   Google Scholar
• Litonjua AA, Weiss ST. Is vitamin D deficiency to blame for the asthma epidemic? J Allergy Clin Immunol 2007; 120: 1031–5.
   Google Scholar
• Holick MF. Vitamin D status: measurement, interpretation, and clinical application. Ann Epidemiol 2009; 19: 73–8.
   Google Scholar
• Lips P. Relative value of 25(OH)D and 1, 25(OH)2D measurements. J Bone Miner Res 2007; 22: 1668–71.
   Google Scholar
• Jones G, Horst R, Carter G, Makin HL. Contemporary diagnosis and treatment of vitamin D-related disorders. J Bone Miner Res 2007; 2: V11–15.
   Google Scholar
• Wallace AM, Gibson S, de la Hunty A, Lamberg-Allardt C, Ashwell M. Measurement of 25-hydroxyvitamin D in the clinical laboratory: current procedures, performance characteristics and limitations. Steroids 2010; 75: 477–88.
   Google Scholar
• Carter GD. Accuracy of 25-hydroxyvitamin D assays: confronting the issues. Curr Drug Targets 2011; 12: 19–28.
   Google Scholar
• Binkley N, Krueger DC, Morgan S, Wiebe D. Current status of clinical 25-hydroxyvitamin D measurement: an assessment of between-laboratory agreement. Clin Chim Acta 2010; 411: 1976–82.
   Google Scholar
• Moon HW, Cho JH, Hur M et al. Comparison of four current 25-hydroxyvitamin D assays. Clin Biochem 2012; 45: 326–30.
   Google Scholar
• Farrell CJ, Martin S, McWhinney B, Straub I, Williams P, Herrmann M. State-of-the-art vitamin D assays: a comparison of automated immunoassays with liquid chromatography-tandem mass spectrometry methods. Clin Chem 2012; 58: 531–42.
   Google Scholar
• Heijboer AC, Blankenstein MA, Kema IP, Buijs MM. Accuracy of 6 routine 25-hydroxyvitamin D assays: influence of vitamin D binding protein concentration. Clin Chem 2012; 58: 543–8.
   Google Scholar
• Carter GD, Carter R, Jones J, Berry J. How accurate are assays for 25-hydroxyvitamin D? Data from the international vitamin D external quality assessment scheme. Clin Chem 2004; 50: 2195–7.
   Google Scholar
• Carter GD, Berry JL, Gunter E et al. Proficiency testing of 25-hydroxyvitamin D (25-OHD) assays. J Steroid Biochem Mol Biol 2010; 121: 176–9.
   Google Scholar
• Yetley EA, Pfeiffer CM, Schleicher RL et al.; Vitamin D Roundtable on the NHANES Monitoring of Serum 25(OH)D. Assay challenges and options for resolving them. NHANES monitoring of serum 25-hydroxyvitamin D: a roundtable summary. J Nutr 2010; 140: 2030S-2045S.
   Google Scholar
• Binkley N, Krueger D, Cowgill CS et al. Assay variation confounds the diagnosis of hypovitaminosis D: a call for standardization. J Clin Endocrinol Metab 2004; 89: 3152–7.
   Google Scholar
• Nowak M, Harrison SL, Buettner PG et al. Vitamin D status of adults from tropical Australia determined using two different laboratory assays: implications for public health messages. Photochem Photobiol 2011; 87: 935–43.
   Google Scholar
• Barake M, Daher RT, Salti I et al. 25-hydroxyvitamin D assay variations and impact on clinical decision making. J Clin Endocrinol Metab 2012; 97: 835–43.
   Google Scholar
• Uitterlinden AG, Fang Y, van Meurs JB, van Leeuwen H, Pols HA. Vitamin D receptor gene polymorphisms in relation to vitamin D related disease states. J Steroid Biochem Mol Biol 2004; 89–90: 187–93
   Google Scholar
• Pilz S, Tomaschitz A. Role of vitamin D in arterial hypertension. Expert Rev Cardiovasc Ther 2010; 8: 1599–608
   Google Scholar
• Wuerzner G, Burnier M, Waeber B. Should hypertensive patients take vitamin D? Curr Hypertens Rep 2012; 14: 318–23.
   Google Scholar
• Swapna N, Vamsi UM, Usha G, Padma T. Risk conferred by FokI polymorphism of vitamin D receptor (VDR) gene for essential hypertension. Indian J Hum Genet 2011; 17: 201–6.
   Google Scholar
• Poon AH, Laprise C, Lemire M et al. Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy. Am J Respir Crit Care Med 2004; 170: 967–73.
   Google Scholar
• Raby BA, Lazarus R, Silverman EK et al. Association of vitamin D receptor gene polymorphisms with childhood and adult asthma. Am J Respir Crit Care Med 2004; 170: 1057–65.
   Google Scholar
• Vollmert C, Illig T, Altmuller J et al. Single nucleotide polymorphism screening and association analysis — exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma. Clin Exp Allergy 2004; 34: 1841–50.
   Google Scholar
• Wjst M. Variants in the vitamin D receptor gene and asthma. BMC Genet 2005; 6: 2.
   Google Scholar
• Butler MW, Burt A, Edwards TL et al. Vitamin D receptor gene as a candidate gene for Parkinson disease. Ann Hum Genet 2011; 75: 201–10.
   Google Scholar
• Gezen-Ak D, Dursun E, Bilgig B et al. Vitamin D receptor gene haplotype is associated with late-onset Alzheimer’s disease. Tohoku J Exp Med 2012; 228: 189–96.
   Google Scholar
• Feng M, Li H, Chen SF, Li WF, Zhang FB. Polymorphisms in the vitamin D receptor gene and risk of autoimmune thyroid diseases: a meta-analysis. Endocrine 2012; 43: 318–26.
   Google Scholar
• Cooper JD, Smyth DJ, Walker NM et al. Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes. Diabetes 2011; 60: 1624–31.
   Google Scholar
• Hussein AG, Mohamed RH, Alghobashy AA. Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children. Cell Immunol 2012; 279: 42–5.
   Google Scholar
• Ramos-Lopez E, Bruck P Jansen T, Herwig J, Badenhoop K. CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. Diabetes Metab Res Rev 2007; 23: 631–6.
   Google Scholar
• Ramos-Lopez E, Kahles H, Weber S et al. Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. Diabetes Obes Metab 2008; 10: 683–5.
   Google Scholar
• Signorello LB, Shi J, Cai Q et al. Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans. PLoS One 2011; 6: e28623.
   Google Scholar
• Orton SM, Morris AP Herrera BM et al. Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis. Am J Clin Nutr 2008; 88: 441–7.
   Google Scholar
• Bailey R, Cooper JD, Zeitels L et al. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Diabetes 2007; 56: 2616–21.
   Google Scholar
• Kitanaka S, Takeyama K, Murayama A et al. Inactivating mutations in the 25-hydroxyvitamin D3 1—hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 1998; 338: 653–61.
   Google Scholar
• Wang JT, Lin CJ, Burridge SM et al. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Genet 1998; 63: 1694–702.
   Google Scholar
• Engelman CD, Fingerlin TE, Langefeld CD et al. Genetic and environmental determinants of 25-hydroxyvitamin D and 1, 25-dihydroxyvitamin D levels in Hispanic and African Americans. J Clin Endocrinol Metab 2008; 93: 3381–8.
   Google Scholar
• Berry D, Hypponen E. Determinants of vitamin D status: focus on genetic variations. Curr Opin Nephrol Hypertens 2011; 20: 331–6.
   Google Scholar
• Ahn J, Albanes D, Berndt SI et al.; Prostate, Lung, Colorectal and Ovarian Trial Project Team. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. Carcinogenesis 2009; 30: 769–76.
   Google Scholar
• Pilz S, Dobnig H, Winklhofer-Roob B et al. Low serum levels of 25-hydroxyvitamin D predict fatal cancer in patients referred to coronary angiography. Cancer Epidemiol Biomarkers Prev 2008; 17: 1228–33.
   Google Scholar
• Thorne J, Campbell MJ. The vitamin D receptor in cancer. Proc Nutr Soc 2008; 67: 115–27.
   Google Scholar
• Schwartz Z, Graham EJ, Wang L et al. Phospholipase A2 activating protein (PLAA) is required for 1alpha,25(OH)2D3 signaling in growth plate chondrocytes. J Cell Physiol 2005; 203: 54–70
   Google Scholar
• Nair-Shalliker V, Clements M, Fenech M, Armstrong BK. Personal sun exposure and serum 25-hydroxy vitamin D concentrations. Photochem Photobiol 2012; 89: 208–14.
   Google Scholar
• Feskanich D, Ma J, Fuchs CS et al. Plasma vitamin D metabolites and risk of colorectal cancer in women. Cancer Epidemiol Biomarkers Prev 2004; 13: 1502–8.
   Google Scholar
• Liu G, Wilding G, Staab MJ et al. Phase II study of 1alpha-hydroxyvitamin D(2) in the treatment of advanced androgen-independent prostate cancer. Clin Cancer Res 2003; 9: 4077–83.
   Google Scholar
• Wactawski-Wende J, Kotchen JM, Anderson GL et al.; Women’s Health Initiative Investigators. Calcium plus vitamin D supplementation and the risk of colorectal cancer. N Engl J Med 2006; 354: 684–96.
   Google Scholar
• Krishnan AV, Feldman D. Mechanisms of the anti-cancer and anti-inflammatory actions of vitamin D. Annu Rev Pharmacol Toxicol 2011; 51: 311–36.
   Google Scholar
• Freedman DM, Chang SC, Falk RT et al. Serum levels of vitamin D metabolites and breast cancer risk in the prostate, lung, colorectal, and ovarian cancer screening trial. Cancer Epidemiol Biomarkers Prev 2008; 17: 889–94.
   Google Scholar
• Agic A, Xu H, Altgassen C et al. Relative expression of 1, 25-dihydroxyvitamin D3 receptor, vitamin D 1a-hydroxylase, vitamin D 24-hydroxylase, and vitamin D 25-hydroxylase in endometriosis and gynecologic cancers. Reproductive Sciences 2007; 14: 486–97.
   Google Scholar
• Parikh G, Varadinova M, Suwandhi P et al. Vitamin D regulates steroidogenesis and insulin-like growth factor binding protein-1 (IGFBP-1) production in human ovarian cells. Horm Metab Res 2010; 42: 754–7.
   Google Scholar
• Henry HL, Norman AW. Vitamin D: metabolism and biological actions. Annu Rev Nutr 1984; 4: 493–520.
   Google Scholar
• Tanamura A, Nomura S, Kurauchi O, Furui T, Mizutani S, Tomoda Y. Purification and characterization of 1, 25(OH)2D3 receptor from human placenta. J Obstet Gynaeco (Tokyo 1995) 1995; 21: 631–9.
   Google Scholar
• Merke J, Hugel U, Ritz E. Nuclear testicular 1, 25-dihydroxyvitamin D3 receptors in Sertoli cells and seminiferous tubules of adult rodents. Biochem Biophys Res Commun 1985; 127: 303–9.
   Google Scholar
• Johnson JA, Grande JP, Roche PC, Kumar R. Immunohistochemical detection and distribution of the 1, 25-dihydroxyvitamin D3 receptor in rat reproductive tissues. Histochem Cell Biol 1996; 105: 7–15.
   Google Scholar
• Corbett ST, Hill O’Nangia AK. Vitamin D receptor found in human sperm. Urology 2006; 68: 1345–9.
   Google Scholar
• Aquila S, Guido C, Perrotta I, Tripepi S, Nastro A, Ando S. Human sperm anatomy: ultrastructural localization of 1a,25-dihydroxyvitamin D receptor and its possible role in the humanmale gamete. J Anat 2008; 213: 555–64.
   Google Scholar
• Blomberg-Jensen M, Nielsen JE et al. Vitamin D receptor and vitamin D metabolizing enzymes are expressed in the human male reproductive tract. Hum Reprod 2010; 25: 1303–11.
   Google Scholar
• Kwiecinski GG, Petrie GI, DeLuca HF. Vitamin D is necessary for reproductive functions of the male rat. J Nutr 1989; 119: 741–4.
   Google Scholar
• Osmundsen BC, Huang HF, Anderson MB, Christakos S, Walters MR. Multiple sites of action of the vitamin D endocrine system: FSH stimulation of testis 1, 25-dihydroxyvitamin D3 receptors. J Steroid Biochem 1989; 34: 339–43.
   Google Scholar
• Du H, Daftary GS, Lalwani SI, Taylor HS. Direct regulation of H0XA10 by 1, 25-(OH)2D3 in human myelomonocytic cells and human endometrial stromal cells. Mol Endocrinol 2005; 19: 2222–33.
   Google Scholar
• Yoshizawa T, Handa Y, Uematsu Y et al. Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat Genet 1997; 16: 391–6.
   Google Scholar
• Kovacs CS, Woodland ML, Fudge NJ, Friel JK. The vitamin D receptor is not required for fetal mineral homeostasis or for the regulation of placental calcium transfer in mice. Am J Physiol Endocrinol Metab 2005; 289: E133–44.
   Google Scholar
• Kinuta K, Tanaka H, Moriwake T, Aya K, Kato S, Seino Y. Vitamin D is an important factor in estrogen biosynthesis of both female and male gonads. Endocrinology 2000; 141: 1317–24.
   Google Scholar
• Lerchbaum E, Obermayer-Pietsch B. Vitamin D and fertility: a systematic review. Eur J Endocrinol 2012; 166: 765–78.
   Google Scholar
• Ozkan S, Jindal S, Greenseid K et al. Replete vitamin D stores predict reproductive success following in vitro fertilization. Fertil Steril 2009; 94: 1314–9.
   Google Scholar
• Blomberg-Jensen M, Bjerrum PJ, Jessen TE et al. Vitamin D is positively associated with sperm motility and increases intracellular calcium in human spermatozoa. Hum Reprod 2011; 26: 1307–17.
   Google Scholar
• Mathieu C, Gysemans C, Giulietti A, Bouillon R. Vitamin D and diabetes. Diabetologia 2005; 48: 1247–57.
   Google Scholar
• Casteels K, Waer M, Bouillon R et al. 1, 25-dihydroxyvitamin D3 restores sensitivity to cyclophosphamide-induced apoptosis in non-obese diabetic (NOD) mice and protects against diabetes. Clin Exp Immunol 1998; 112: 181–7.
   Google Scholar
• Littorin B, Blom P Scholin A et al. Lower levels of plasma 25-hydroxyvitamin D among young adults at diagnosis of autoimmune type 1 diabetes compared with control subjects: results from the nationwide Diabetes Incidence Study in Sweden (DISS). Diabetologia 2006; 49: 2847–52.
   Google Scholar
• Svoren BM, Volkening LK, Wood JR, Laffel LM. Significant vitamin D deficiency in youth with type 1 diabetes mellitus. J Pediatr 2009; 154: 132–4.
   Google Scholar
• Janner M, Ballinari P Mullis PE, Fluck CE. High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes. Swiss Med Wkly 2010; 140: w13091.
   Google Scholar
• Pittas AG, Dawson-Hughes B, Li T et al. Vitamin D and calcium intake in relation to type 2 diabetes in women. Diabetes Care 2006; 29: 650–6.
   Google Scholar
• Liu S, Song Y, Ford ES, Manson JE, Buring JE, Ridker PM. Dietary calcium, vitamin D, and the prevalence of metabolic syndrome in middle-aged and older U.S. women. Diabetes Care 2005; 28: 2926–32.
   Google Scholar
• Daga RA, Laway BA, Shah ZA, Mir SA, Kotwal SK, Zargar AH. High prevalence of vitamin D deficiency among newly diagnosed youth-onset diabetes mellitus in north India. Arq Bras Endocrinol Metabol 2012; 56: 423–8.
   Google Scholar
• Pani MA, Knapp M, Donner H et al. Vitamin D receptor allele combinations influence genetic susceptibility to type 1 diabetes in Germans. Diabetes 2000; 49: 504–7.
   Google Scholar
• Chang TJ, Lei HH, Yeh JI et al. Vitamin D receptor gene polymorphisms influence susceptibility to type 1 diabetes mellitus in the Taiwanese population. Clin Endocrinol (Oxf) 2000; 52: 575–80.
   Google Scholar
• Pociot F, McDermott MF. Genetics of type 1 diabetes mellitus. Genes Immun 2002; 3: 235–49.
   Google Scholar
• Engelman CD, Meyers KJ, Ziegler JT et al. Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study. J Steroid Biochem Mol Biol 2010; 122: 186–92.
   Google Scholar
• Lasky-Su J, Lange N, Brehm JM et al. Genome-wide association analysis of circulating vitamin D levels in children with asthma. Hum Genet 2012; 131: 1495–505.
   Google Scholar