Gene Symbol: CYP27B1
Description: cytochrome P450 family 27 subfamily B member 1
Alias: CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR, 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial, 1alpha(OH)ase, 25 hydroxyvitamin D3-1-alpha hydroxylase, 25-OHD-1 alpha-hydroxylase, VD3 1A hydroxylase, calcidiol 1-monooxygenase, cytochrome P450 subfamily XXVIIB polypeptide 1, cytochrome P450, family 27, subfamily B, polypeptide 1, cytochrome P450C1 alpha, cytochrome P450VD1-alpha, cytochrome p450 27B1
Species: human
Products:     CYP27B1

Top Publications

  1. Zhou S, Leboff M, Glowacki J. Vitamin D metabolism and action in human bone marrow stromal cells. Endocrinology. 2010;151:14-22 pubmed publisher
    ..D, 1 alpha,25-dihydroxyvitamin D [1,25(OH)(2)D] is catalyzed in several cell types by the 1 alpha-hydroxylase (CYP27B1), but little is known about the expression or regulation of CYP27B1 in human bones...
  2. Wang J, Lin C, Burridge S, Fu G, Labuda M, Portale A, et al. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Genet. 1998;63:1694-702 pubmed
    Vitamin D-dependent rickets type I (VDDR-I), also known as pseudo-vitamin D-deficiency rickets, appears to result from deficiency of renal vitamin D 1alpha-hydroxylase activity. Prior work has shown that the affected gene lies on 12q13.3...
  3. Fischer D, Thomé M, Becker S, Cordes T, Diedrich K, Friedrich M, et al. 25-Hydroxyvitamin D3 1alpha-hydroxylase splice variants in benign and malignant ovarian cell lines and tissue. Anticancer Res. 2009;29:3627-33 pubmed
    ..Their increased expression in malignancy is possibly bound to the reduction of enzyme activity, which may lead to the genesis of ovarian cancer. In the future, preventive and therapeutic activities may result from these findings. ..
  4. Pani M, Regulla K, Segni M, Krause M, Hofmann S, Hufner M, et al. Vitamin D 1alpha-hydroxylase (CYP1alpha) polymorphism in Graves' disease, Hashimoto's thyroiditis and type 1 diabetes mellitus. Eur J Endocrinol. 2002;146:777-81 pubmed
    ..Vitamin D 1alpha-hydroxylase (CYP1alpha) is one of the key enzymes regulating both systemic and tissue levels of 1,25-dihyroxyvitamin D(3) (1,25(OH)(2)D(..
  5. Urbschat A, Paulus P, von Quernheim Q, Bruck P, Badenhoop K, Zeuzem S, et al. Vitamin D hydroxylases CYP2R1, CYP27B1 and CYP24A1 in renal cell carcinoma. Eur J Clin Invest. 2013;43:1282-90 pubmed publisher
    ..Concerning the synthesis of vitamin D, the hydroxylases CYP2R1, CYP27B1 and CYP24A1 play a critical role, and the latter molecule determines the biological half-life of 1,25(OH)2 D3 , ..
  6. Holt S, Kwon E, Koopmeiners J, Lin D, Feng Z, Ostrander E, et al. Vitamin D pathway gene variants and prostate cancer prognosis. Prostate. 2010;70:1448-60 pubmed publisher
    ..tagSNPs) in genes encoding for vitamin D receptor (VDR), vitamin D activating enzyme 1-alpha-hydroxylase (CYP27B1), and deactivating enzyme 24-hydroxylase (CYP24A1) in a cohort of 1,294 Caucasian cases with an average of 8 ..
  7. . Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet. 2009;41:824-8 pubmed publisher
    ..6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001). ..
  8. Anderson P, Atkins G, Findlay D, Oloughlin P, Welldon K, Vincent C, et al. RNAi-mediated silencing of CYP27B1 abolishes 1,25(OH)2D3 synthesis and reduces osteocalcin and CYP24 mRNA expression in human osteosarcoma (HOS) cells. J Steroid Biochem Mol Biol. 2007;103:601-5 pubmed inhibit the mRNA encoding the enzyme responsible for 1,25D synthesis, 25-hydroxyvitamin D 1alpha-hydroxylase (CYP27B1)...
  9. Clinckspoor I, Hauben E, Verlinden L, Van Den Bruel A, Vanwalleghem L, Vander Poorten V, et al. Altered expression of key players in vitamin D metabolism and signaling in malignant and benign thyroid tumors. J Histochem Cytochem. 2012;60:502-11 pubmed publisher
    ..Vitamin D receptor (VDR) and CYP27B1 and CYP24A1 (respectively activating and catabolizing vitamin D) expression was studied (RT-PCR, ..

More Information


  1. Adams J, Hewison M. Extrarenal expression of the 25-hydroxyvitamin D-1-hydroxylase. Arch Biochem Biophys. 2012;523:95-102 pubmed publisher
    Like the vitamin D receptor (VDR), the CYP27B1-hydroxylase is expressed widely in human tissues...
  2. Jennings C, Owen C, Wilson V, Pearce S. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. J Mol Endocrinol. 2005;34:859-63 pubmed
    Previous studies have suggested an association between alleles of the CYP27B1 (1-alpha hydroxylase) gene and autoimmune conditions...
  3. Ramos Lopez E, Bruck P, Jansen T, Pfeilschifter J, Radeke H, Badenhoop K. CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. J Steroid Biochem Mol Biol. 2007;103:807-10 pubmed
    ..of these metabolites: the 25-Vitamin-D-hydroxylase (CYP2R1), the 25-hydroxyvitamin-D(3)-1-alpha-hydroxylase (CYP27B1) and the 25(OH)D(3)-24-hydroxylase (CYP24) among others...
  4. Fischer D, Seifert M, Becker S, Ludders D, Cordes T, Reichrath J, et al. 25-Hydroxyvitamin D3 1alpha-hydroxylase splice variants in breast cell lines MCF-7 and MCF-10. Cancer Genomics Proteomics. 2007;4:295-300 pubmed
    ..In MCF10A cells, more splice variants were identified, it may be that malignant cells contain inactive variants. How far they show a reduced activity remains unclear as no activity measurements were performed. ..
  5. Wu S, Ren S, Nguyen L, Adams J, Hewison M. Splice variants of the CYP27b1 gene and the regulation of 1,25-dihydroxyvitamin D3 production. Endocrinology. 2007;148:3410-8 pubmed
    The cytochrome P450 25-hydroxyvitamin D3-1alpha-hydroxylase (CYP27b1) plays a pivotal role in vitamin D physiology by catalyzing synthesis of active 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]...
  6. Sundqvist E, Bäärnhielm M, Alfredsson L, Hillert J, Olsson T, Kockum I. Confirmation of association between multiple sclerosis and CYP27B1. Eur J Hum Genet. 2010;18:1349-52 pubmed publisher
    ..In the kidney, skin and immune cells, 25-OHD(3) is turned into bioactive 1,25(OH)(2)D(3) by the enzyme coded by CYP27B1 (cytochrome P450 family 27 subfamily B peptide 1) on chromosome 12q13.1-3...
  7. Orton S, Morris A, Herrera B, Ramagopalan S, Lincoln M, Chao M, et al. Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis. Am J Clin Nutr. 2008;88:441-7 pubmed
    ..for its association with genetic variants in 2 candidate genes [vitamin D receptor and 1-alpha-hydroxylase (CYP27B1)]...
  8. Ahn J, Albanes D, Berndt S, Peters U, Chatterjee N, Freedman N, et al. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. Carcinogenesis. 2009;30:769-76 pubmed publisher
    We systematically investigated the association of 48 SNPS in four vitamin D metabolizing genes [CYP27A1, GC, CYP27B1 and CYP24A1] with serum 25-hydroxyvitamin D [25(OH)D] and 1,25-dihydroxyvitamin D [1,25(OH)(2)D] levels and the ..
  9. Lopes N, Sousa B, Martins D, Gomes M, Vieira D, Veronese L, et al. Alterations in Vitamin D signalling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions. BMC Cancer. 2010;10:483 pubmed publisher
    ..the Vitamin D receptor (VDR) and the synthesis and degradation of this hormone are regulated by the enzymes CYP27B1 and CYP24A1, respectively...
  10. Atkins G, Anderson P, Findlay D, Welldon K, Vincent C, Zannettino A, et al. Metabolism of vitamin D3 in human osteoblasts: evidence for autocrine and paracrine activities of 1 alpha,25-dihydroxyvitamin D3. Bone. 2007;40:1517-28 pubmed
    ..D(3) (1,25D) derives from renal conversion of 25-hydroxyvitamin D(3) (25D), by the 25D 1 alpha-hydroxylase (CYP27B1)...
  11. Kemmis C, Salvador S, Smith K, Welsh J. Human mammary epithelial cells express CYP27B1 and are growth inhibited by 25-hydroxyvitamin D-3, the major circulating form of vitamin D-3. J Nutr. 2006;136:887-92 pubmed
    ..b>CYP27B1 is a cytochrome P450-containing hydroxylase expressed in kidney and other tissues that generates 1alpha,25(OH)2D3 ..
  12. Dusso A, Brown A, Slatopolsky E. Vitamin D. Am J Physiol Renal Physiol. 2005;289:F8-28 pubmed
    ..This vitamin D hormone activates its cellular receptor (vitamin D receptor or VDR), which alters the transcription rates of target genes responsible for the biological responses...
  13. Brozyna A, Jozwicki W, Janjetovic Z, Slominski A. Expression of the vitamin D-activating enzyme 1?-hydroxylase (CYP27B1) decreases during melanoma progression. Hum Pathol. 2013;44:374-87 pubmed publisher
    1?-Hydroxylase (CYP27B1), the enzyme responsible for the synthesis of the biologically active form of vitamin D (1,25(OH)(2)D(3)), is expressed in the skin...
  14. Evans K, Taylor H, Zehnder D, Kilby M, Bulmer J, Shah F, et al. Increased expression of 25-hydroxyvitamin D-1alpha-hydroxylase in dysgerminomas: a novel form of humoral hypercalcemia of malignancy. Am J Pathol. 2004;165:807-13 pubmed
    ..We further postulate that this autocrine/paracrine action of 1alpha-hydroxylase may lead to increased circulating levels of 1,25(OH)2D3 and a form of HHM which is distinct from that seen with PTHrP-secreting tumors. ..
  15. Lopez E, Zwermann O, Segni M, Meyer G, Reincke M, Seissler J, et al. A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans. Eur J Endocrinol. 2004;151:193-7 pubmed
    b>CYP27B1 hydroxylase catalyzes the conversion of 25 hydroxyvitamin D(3) (25OHD(3)) to 1,25(OH)(2)D(3), the most active natural vitamin D metabolite, which plays a role in the regulation of immunity and cell proliferation...
  16. Ebert R, Jovanovic M, Ulmer M, Schneider D, Meissner Weigl J, Adamski J, et al. Down-regulation by nuclear factor kappaB of human 25-hydroxyvitamin D3 1alpha-hydroxylase promoter. Mol Endocrinol. 2004;18:2440-50 pubmed
    ..Down-regulation of 1alpha-hydroxylase promoter through NFkappaB signaling may contribute to the pathogenesis of inflammation-associated osteopenia/osteoporosis. ..
  17. Fu G, Lin D, Zhang M, Bikle D, Shackleton C, Miller W, et al. Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol Endocrinol. 1997;11:1961-70 pubmed
    ..Because its expression in the kidney is very low, we cloned and sequenced cDNA for 25-OHD-1 alpha-hydroxylase (P450c1 alpha) from human keratinocytes, in which 1 alpha-hydroxylase activity and mRNA expression can be induced to be ..
  18. Bailey R, Cooper J, Zeitels L, Smyth D, Yang J, Walker N, et al. Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. Diabetes. 2007;56:2616-21 pubmed derived from its precursor 25-hydroxyvitamin D by the enzyme 1 alpha-hydroxylase encoded by the CYP27B1 gene and is inactivated by 24-hydroxylase encoded by the CYP24A1 gene...
  19. van Driel M, Koedam M, Buurman C, Hewison M, Chiba H, Uitterlinden A, et al. Evidence for auto/paracrine actions of vitamin D in bone: 1alpha-hydroxylase expression and activity in human bone cells. FASEB J. 2006;20:2417-9 pubmed
    ..This is strongly dependent on osteoclast inducer RANKL. This study showing expression, activity, and functionality of 1alpha-hydroxylase unequivocally demonstrates that vitamin D can act in an auto/paracrine manner in bone. ..
  20. Kemmis C, Welsh J. Mammary epithelial cell transformation is associated with deregulation of the vitamin D pathway. J Cell Biochem. 2008;105:980-8 pubmed publisher synthesized from 25(OH)D3 (the major circulating form of the vitamin) by the mitochondrial enzyme CYP27b1 in renal and other tissues...
  21. Kitanaka S, Murayama A, Sakaki T, Inouye K, Seino Y, Fukumoto S, et al. No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. J Clin Endocrinol Metab. 1999;84:4111-7 pubmed
    Pseudovitamin D deficiency rickets (PDDR) is an autosomal recessive disorder caused by defect in the activation of vitamin D...
  22. Chemouny J, Sannier A, Hanouna G, Champion L, Vrtovsnik F, Daugas E. Malakoplakia as a cause of severe hypercalcemia through ectopic 25-hydroxyvitamin D3 1-alpha-hydroxylase expression: A case report. Medicine (Baltimore). 2018;97:e12090 pubmed publisher
    ..Therefore, such supplementation should not be given in malakoplakia patients without an actual deficiency and requires careful monitoring of serum calcium. ..
  23. Tahir S, Demirbilek H, Ozbek M, Baran R, Tanrıverdi S, Hussain K. Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I. Horm Res Paediatr. 2016;85:309-17 pubmed publisher an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene (CYP27B1)...
  24. Tanaka K, Kanazawa I, Miyake H, Yano S, Amano C, Ishikawa N, et al. Vitamin D-mediated hypercalcemia in multicentric Castleman's disease. J Bone Miner Metab. 2017;35:122-125 pubmed publisher
    ..Prednisolone treatment improved the hypercalcemia and decreased the levels of 1,25(OH)2D and IL-6. We first reported a case of vitamin D-mediated hypercalcemia in MCD. ..
  25. Lieben L, Verlinden L, Masuyama R, Torrekens S, Moermans K, Schoonjans L, et al. Extra-intestinal calcium handling contributes to normal serum calcium levels when intestinal calcium absorption is suboptimal. Bone. 2015;81:502-12 pubmed publisher
    ..Lack of intestinal vitamin D receptor (VDR) signaling does however not result in hypocalcemia, because the increased 1,25(OH)2D levels stimulate calcium ..
  26. Rahmannezhad G, Mashayekhi F, Goodarzi M, Rezvanfar M, Sadeghi A. Association between vitamin D receptor ApaI and TaqI gene polymorphisms and gestational diabetes mellitus in an Iranian pregnant women population. Gene. 2016;581:43-7 pubmed publisher
    It has been proposed that variants of the nuclear vitamin D receptor (VDR) gene are associated with a susceptibility to type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM)...
  27. Franco M, Sutherland G, Lavado R. Xenobiotic metabolism in the fish hepatic cell lines Hepa-E1 and RTH-149, and the gill cell lines RTgill-W1 and G1B: Biomarkers of CYP450 activity and oxidative stress. Comp Biochem Physiol C Toxicol Pharmacol. 2018;206-207:32-40 pubmed publisher
    ..b>CYP1-like associated activity, measured through EROD activity, was only detected in hepatic cells; Hepa-E1 cells showed ..
  28. Li N, Wu H, Hang F, Zhang Y, Li M. Women with recurrent spontaneous abortion have decreased 25(OH) vitamin D and VDR at the fetal-maternal interface. Braz J Med Biol Res. 2017;50:e6527 pubmed publisher
    ..We measured 25(OH) D, interleukin (IL)-17, IL-23, transforming growth factor ? (TGF-?), VDR and 1-?-hydroxylase (CYP27B1) in decidual tissues collected during the abortion procedure...
  29. Neelankal John A, Jiang F. An overview of type 2 diabetes and importance of vitamin D3-vitamin D receptor interaction in pancreatic β-cells. J Diabetes Complications. 2018;32:429-443 pubmed publisher
    ..Further research is required to develop a more in-depth understanding of the role VDR plays in β-cell function and the processes by which the beta cell function is preserved.
  30. Malecki M, Klupa T, Wolkow P, Bochenski J, Wanic K, Sieradzki J. Association study of the vitamin D: 1alpha-hydroxylase (CYP1alpha) gene and type 2 diabetes mellitus in a Polish population. Diabetes Metab. 2003;29:119-24 pubmed
    ..One of them is the vitamin D 1alpha-hydroxylase (CYP1alpha) gene...
  31. Schutkowski A, Max D, Bönn M, Brandsch C, Grundmann S, Hirche F, et al. Vitamin D does not play a functional role in adipose tissue development in rodent models. Mol Nutr Food Res. 2017;: pubmed publisher
    ..Here, we sought to study the impact of the vitamin D receptor (Vdr) on adipocyte size in young and old mice and the effect of maternal vitamin D deficiency on fetal adipogenesis.
  32. Szybinski M, Brzeminski P, Fabisiak A, Berkowska K, Marcinkowska E, Sicinski R. Seco-B-Ring Steroidal Dienynes with Aromatic D Ring: Design, Synthesis and Biological Evaluation. Int J Mol Sci. 2017;18: pubmed publisher indicate that the target compounds could mimic the ligands with a good affinity to the vitamin D receptor (VDR)...
  33. Wen Y, Da M, Zhang Y, Peng L, Yao J, Duan Y. Alterations in vitamin D signaling pathway in gastric cancer progression: a study of vitamin D receptor expression in human normal, premalignant, and malignant gastric tissue. Int J Clin Exp Pathol. 2015;8:13176-84 pubmed
    ..The antitumor role is mainly mediated by the vitamin D receptor (VDR). Our hypothesis is that VDR may be abnormally (poorly) expressed in gastric cancer tissue...
  34. Zenata O, Vrzal R. Fine tuning of vitamin D receptor (VDR) activity by post-transcriptional and post-translational modifications. Oncotarget. 2017;8:35390-35402 pubmed publisher
    Vitamin D receptor (VDR) is a member of the nuclear receptor (NR) superfamily of ligand-activated transcription factors...
  35. Hünten S, Hermeking H. p53 directly activates cystatin D/CST5 to mediate mesenchymal-epithelial transition: a possible link to tumor suppression by vitamin D3. Oncotarget. 2015;6:15842-56 pubmed inhibitor of cysteine proteases of the cathepsin family and is directly induced by the vitamin D receptor (VDR). Interestingly, vitamin D3 exerts tumor suppressive effects in a variety of tumor types...
  36. Shahabi A, Alipour M, Safiri H, Tavakol P, Alizadeh M, Milad Hashemi S, et al. Vitamin D Receptor Gene Polymorphism: Association with Susceptibility to Early-Onset Breast Cancer in Iranian, BRCA1/2-Mutation Carrier and non-carrier Patients. Pathol Oncol Res. 2018;24:601-607 pubmed publisher
    ..Vitamin D receptor (VDR) is expressed in more than 36 cell types in different organs as in cancerous cells...
  37. Das B, Patra S, Behera C, Suar M. Genotyping of vitamin D receptor gene polymorphisms using mismatched amplification mutation assay in neonatal sepsis patients of Odisha, eastern India. Infect Genet Evol. 2016;45:40-47 pubmed publisher
    ..Polymorphisms in vitamin D receptor (VDR) gene can influence the expression of vitamin D in individuals...
  38. Peres A, Zamboni R, King I, Madrenas J. Suppression of CYP1 members of the AHR response by pathogen-associated molecular patterns. J Leukoc Biol. 2017;102:1471-1480 pubmed publisher
    ..genes that it transcriptionally activates, including the AHR repressor (Ahrr) and the cytochrome P450 1 (Cyp1) family, which are critical for preventing exacerbated AHR activity...
  39. Toselli F, Dodd P, Gillam E. Emerging roles for brain drug-metabolizing cytochrome P450 enzymes in neuropsychiatric conditions and responses to drugs. Drug Metab Rev. 2016;48:379-404 pubmed publisher to discuss the evidence behind the functional importance of P450s from the "xenobiotic-metabolizing" families, CYP1, CYP2 and CYP3 in the brain...
  40. Ji X, Wang Y, Cao C, Zhong L. Assessment of the link between Vitamin D receptor TaqI gene polymorphism and periodontitis: a meta-analysis in a Chinese population. Genet Mol Res. 2016;15: pubmed publisher
    Although a number of studies have been conducted to determine the association between vitamin D receptor (VDR) TaqI polymorphism and periodontitis in the Chinese population, this association remains elusive...
  41. Safar H, Chehadeh S, Abdel Wareth L, Haq A, Jelinek H, Elghazali G, et al. Vitamin D receptor gene polymorphisms among Emirati patients with type 2 diabetes mellitus. J Steroid Biochem Mol Biol. 2018;175:119-124 pubmed publisher
    ..Among these, the Vitamin D receptor (VDR) gene is a good candidate for T2DM susceptibility...
  42. Cieslińska A, Kostyra E, Chwała B, Moszyńska Dumara M, Fiedorowicz E, Teodorowicz M, et al. Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism. Brain Sci. 2017;7: pubmed publisher
    ..The active metabolite of vitamin D? has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes...
  43. Velásquez Jones L, Medeiros M, Valverde Rosas S, Jiménez Triana C, Del Moral Espinosa I, Romo Vázquez J, et al. [Long term follow up of a patient with type I vitamin D-dependent rickets]. Bol Med Hosp Infant Mex. 2015;72:190-194 pubmed publisher
    Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1α-hydroxylase gene...
  44. Le T, Ogawa M, Kizana E, Gunton J, Chong J. Vitamin D Improves Cardiac Function After Myocardial Infarction Through Modulation of Resident Cardiac Progenitor Cells. Heart Lung Circ. 2018;27:967-975 pubmed publisher
    ..1,25D dose-dependently increased expression of vitamin D receptor (Vdr) and reduced large colony formation...
  45. Singh P, van den Berg P, Long M, Vreugdenhil A, Grieshober L, Ochs Balcom H, et al. Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes. BMC Genomics. 2017;18:132 pubmed publisher
    ..Nuclear hormone receptors are targets for many therapeutic drugs, and include the vitamin D receptor (VDR)...
  46. Taguchi K, Yasui T, MILLINER D, Hoppe B, Chi T. Genetic Risk Factors for Idiopathic Urolithiasis: A Systematic Review of the Literature and Causal Network Analysis. Eur Urol Focus. 2017;3:72-81 pubmed publisher
    ..Although some genes such as SPP1, CASR, VDR, CLDN14, and SLC34A1 were identified by several studies and recognized by prior reviews, further investigation ..
  47. Moradi N, Fadaei R, Ahmadi R, Mohammad M, Shahmohamadnejad S, Tavakoli Yaraki M, et al. Role of serum MMP-9 levels and vitamin D receptor polymorphisms in the susceptibility to coronary artery disease: An association study in Iranian population. Gene. 2017;628:295-300 pubmed publisher
    ..28, P<0.001). In addition, we identified that VDR gene FokI polymorphism was significantly associated with CAD...
  48. Yang C, Li J, Li Y, Wu D, Sui C, Jiang Y, et al. The vitamin D receptor gene ApaI polymorphism is associated with increased risk of renal cell carcinoma in Chinese population. Sci Rep. 2016;6:25987 pubmed publisher
    ..It exerts its activity through the intracellular vitamin D receptor (VDR), which regulates the transcription of genes...
  49. Chakraborty A, Mishra A, Soni A, Regina T, Mohil R, Bhatnagar D, et al. Vitamin D receptor gene polymorphism(s) and breast cancer risk in north Indians. Cancer Detect Prev. 2009;32:386-94 pubmed
    ..The actions of Vitamin D are mediated via the Vitamin D receptor (VDR), and the polymorphisms at 3'UTR region of this gene are associated with the risk and progression of breast ..
  50. Girgis C, Cha K, Houweling P, Rao R, Mokbel N, Lin M, et al. Vitamin D Receptor Ablation and Vitamin D Deficiency Result in Reduced Grip Strength, Altered Muscle Fibers, and Increased Myostatin in Mice. Calcif Tissue Int. 2015;97:602-10 pubmed publisher
    ..These findings support a direct role for vitamin D in muscle function and corroborate earlier work on the presence of VDR in this tissue.
  51. Verone Boyle A, Shoemaker S, Attwood K, Morrison C, Makowski A, Battaglia S, et al. Diet-derived 25-hydroxyvitamin D3 activates vitamin D receptor target gene expression and suppresses EGFR mutant non-small cell lung cancer growth in vitro and in vivo. Oncotarget. 2016;7:995-1013 pubmed publisher
    ..25D3 inhibited clonogenic growth in a dose-dependent manner. CYP27B1 encodes the 1α-hydroxylase (1αOHase) that converts 25D3 to the active metabolite, 1,25-dihydroxyvitamin D3 (..
  52. Andrukhova O, Streicher C, Zeitz U, Erben R. Fgf23 and parathyroid hormone signaling interact in kidney and bone. Mol Cell Endocrinol. 2016;436:224-39 pubmed publisher
    ..bone and mineral metabolism in 9-month-old mice lacking both Fgf23 or Klotho and a functioning vitamin D receptor (VDR)...
  53. Laursen J, Søndergaard H, Sørensen P, Sellebjerg F, Oturai A. Association between age at onset of multiple sclerosis and vitamin D level-related factors. Neurology. 2016;86:88-93 pubmed publisher
    ..D level-associated single-nucleotide polymorphisms (SNPs) in GC and CYP2R1, multiple sclerosis (MS) risk SNPs in CYP27B1, CYP24A1, and HLA-DRB1*1501, and adolescent exposure to environmental risk factors for hypovitaminosis D, with MS ..
  54. El Hanbuli H, Dawoud N, Mahmoud R. Narrow-band UVB effects on cutaneous vitamin D receptor expression and serum 25-hydroxyvitamin D in generalized vitiligo. Photodermatol Photoimmunol Photomed. 2017;: pubmed publisher
    ..This study is the first to elucidate NB-UVB effects on immunohistochemical vitamin D receptor (VDR) expression in generalized vitiligo and correlate it with serum vitamin D and repigmentation response.
  55. Saad M, Verbueken E, Pype C, Casteleyn C, Van Ginneken C, Maes L, et al. In vitro CYP1A activity in the zebrafish: temporal but low metabolite levels during organogenesis and lack of gender differences in the adult stage. Reprod Toxicol. 2016;64:50-6 pubmed publisher
    ..As the cytochrome P450 1 (CYP1) family plays an important role in the biotransformation of several pollutants and drugs, a quantitative in vitro ..
  56. Slominski A, Kim T, Hobrath J, Janjetovic Z, Oak A, Postlethwaite A, et al. Characterization of a new pathway that activates lumisterol in vivo to biologically active hydroxylumisterols. Sci Rep. 2017;7:11434 pubmed publisher
    ..Molecular modeling and studies on VDRE-transcriptional activity excludes action through the genomic site of the VDR. However, their favorable interactions with the A-pocket in conjunction with VDR translocation studies suggest they ..
  57. Somjen D, Weisman Y, Kohen F, Gayer B, Limor R, Sharon O, et al. 25-hydroxyvitamin D3-1alpha-hydroxylase is expressed in human vascular smooth muscle cells and is upregulated by parathyroid hormone and estrogenic compounds. Circulation. 2005;111:1666-71 pubmed
    ..Because exogenous vitamin D inhibits VSMC proliferation, the role of this system as an autocrine mechanism to curb changes in VSMC proliferation and phenotype is a subject for future investigation. ..
  58. Gong C, Long Z, Yu Y, Zhu L, Tian J, Li S, et al. Dietary factors and polymorphisms in vitamin D metabolism genes: the risk and prognosis of colorectal cancer in northeast China. Sci Rep. 2017;7:8827 pubmed publisher
    CYP24A1 and CYP27B1 are critical genes determining 1α,25(OH)2D3 concentration and impacting on carcinogenesis...
  59. Morgese F, Soldato D, Pagliaretta S, Giampieri R, Brancorsini D, Torniai M, et al. Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients. Oncotarget. 2017;8:75914-75923 pubmed publisher
    ..Therefore we evaluate the impact of different genotypes for phosphoinositide-3-kinase (PI3K) and vitamin D3 nuclear receptor (VDR) SNPs on melanoma patients' outcome.
  60. Alzahrani A, Zou M, Baitei E, Alshaikh O, Al Rijjal R, Meyer B, et al. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. J Clin Endocrinol Metab. 2010;95:4176-83 pubmed publisher
    Mutations in the CYP27B1 gene, which encodes vitamin D 1alpha-hydroxylase, are the genetic basis for vitamin D-dependent rickets type 1 (VDDR-I).
  61. Wang L, Yan X, Yan C, Zhang X, Hui L, Xue M, et al. Women with Recurrent Miscarriage Have Decreased Expression of 25-Hydroxyvitamin D3-1α-Hydroxylase by the Fetal-Maternal Interface. PLoS ONE. 2016;11:e0165589 pubmed publisher
    ..The 25-hydroxyvitamin D3-1α-hydroxylase (CYP27B1) is integral to the vitamin D metabolic pathway...
  62. Zaghlool A, Halvardson J, Zhao J, Etemadikhah M, Kalushkova A, Konska K, et al. A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment. Hum Mutat. 2016;37:964-75 pubmed publisher
    ..ACF1 has been previously reported to bind to the promoter of the vitamin D receptor (VDR)-regulated genes and suppress their expression...
  63. Wang J, Thingholm L, Skiecevičienė J, Rausch P, Kummen M, Hov J, et al. Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. Nat Genet. 2016;48:1396-1406 pubmed publisher
    ..associations for overall microbial variation and individual taxa at multiple genetic loci, including the VDR gene (encoding vitamin D receptor)...
  64. Kaukinen A, Siiskonen H, Pelkonen J, Harvima I. Immunoreactivity to CYP24A1, but not vitamin D receptor, is increased in mast cells of keratinocyte skin cancers. Eur J Dermatol. 2017;27:590-598 pubmed publisher
    In mouse skin models, mast cells have been shown to express vitamin D receptor (VDR) that can mediate the immunosuppressive effects of ultraviolet B radiation and vitamin D3...
  65. Otero R, Seoane S, Sigüeiro R, Belorusova A, Maestro M, Perez Fernandez R, et al. Carborane-based design of a potent vitamin D receptor agonist. Chem Sci. 2016;7:1033-1037 pubmed publisher
    The vitamin D nuclear receptor (VDR) is a potential target for cancer therapy. It is expressed in many tumors and its ligand shows anticancer actions...
  66. Quarni W, Lungchukiet P, Tse A, Wang P, Sun Y, Kasiappan R, et al. RIPK1 binds to vitamin D receptor and decreases vitamin D-induced growth suppression. J Steroid Biochem Mol Biol. 2017;173:157-167 pubmed publisher
    ..In our studies, RIPK1 decreased the transcriptional activity of vitamin D receptor (VDR) in luciferase reporter assays independent of its kinase activity, suggesting a negative role of RIPK1 in 1,25D3 ..
  67. Wang J, Keisala T, Solakivi T, Minasyan A, Kalueff A, Tuohimaa P. Serum cholesterol and expression of ApoAI, LXRbeta and SREBP2 in vitamin D receptor knock-out mice. J Steroid Biochem Mol Biol. 2009;113:222-6 pubmed publisher
    ..Here we used two strains of VDR knock-out (VDR-KO) mice to study whether a lack of vitamin D action has any effect on cholesterol metabolism...
  68. Ruggiero B, Padwa B, Christoph K, Zhou S, Glowacki J. Vitamin D metabolism and regulation in pediatric MSCs. J Steroid Biochem Mol Biol. 2016;164:287-291 pubmed publisher
    ..There was constitutive expression of vitamin D receptor (VDR), megalin, d-hydroxylases (CYP27B1, CYP27A1, CYP2R1, and CYP24A1), and estrogen receptor (ER). There was 2...
  69. Torremadé N, Bozic M, Panizo S, Barrio Vazquez S, Fernández Martín J, Encinas M, et al. Vascular Calcification Induced by Chronic Kidney Disease Is Mediated by an Increase of 1α-Hydroxylase Expression in Vascular Smooth Muscle Cells. J Bone Miner Res. 2016;31:1865-1876 pubmed publisher
    ..We conclude that local activation of 1α-hydroxylase in the artery mediates VC observed in uremia. © 2016 American Society for Bone and Mineral Research. ..
  70. Wang G, Cao Y, Wu T, Duan C, Wu J, Hu J, et al. Genetic factors of cervical spondylotic myelopathy-a systemic review. J Clin Neurosci. 2017;44:89-94 pubmed publisher
    ..neurotrophic factor (BDNF), osteopontin (OPN), bone morphogenic protein (BMP) 4, collagen IX, vitamin D receptor (VDR), apolipoprotein E (ApoE), hypoxia-inducible factor α (HIF-1α), and cyclooxygenase 2 (COX-2)...
  71. Neme A, Nurminen V, Seuter S, Carlberg C. The vitamin D-dependent transcriptome of human monocytes. J Steroid Biochem Mol Biol. 2016;164:180-187 pubmed publisher
    ..D3 (1,25(OH)2D3), serves as a ligand of the nuclear receptor vitamin D receptor (VDR)...
  72. Vangoitsenhoven R, Wolden Kirk H, Lemaire K, Verstuyf A, Verlinden L, Yamamoto Y, et al. Effect of a transcriptional inactive or absent vitamin D receptor on beta-cell function and glucose homeostasis in mice. J Steroid Biochem Mol Biol. 2016;164:309-317 pubmed publisher
    ..beta-cell dysfunction and a higher risk of diabetes, but mice and humans with an absence of the vitamin D receptor (VDR) display normal glucose tolerance...
  73. Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S. 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Science. 1997;277:1827-30 pubmed
    ..1alpha(OH)ase, which was cloned from the kidney of mice lacking the vitamin D receptor (VDR-/- mice), is a member of the P450 family of enzymes (P450VD1alpha)...
  74. Selvaraj P, Prabhu Anand S, Harishankar M, Alagarasu K. Plasma 1,25 dihydroxy vitamin D3 level and expression of vitamin d receptor and cathelicidin in pulmonary tuberculosis. J Clin Immunol. 2009;29:470-8 pubmed publisher
    ..Using real-time polymerase chain reaction (PCR), induction of VDR, cathelicidin, and CYP27B1 mRNA were studied in live Mycobacterium tuberculosis-stimulated macrophage cultures treated with or without 1,25 ..
  75. Maistro S, Snitcovsky I, Sarkis A, da Silva I, Brentani M. Vitamin D receptor polymorphisms and prostate cancer risk in Brazilian men. Int J Biol Markers. 2004;19:245-9 pubmed
    ..of prostate cancer risk and inherited polymorphisms in the 3'untranslated region of the vitamin D receptor (VDR) gene have been associated with the risk and progression of prostate cancer in some populations...
  76. Cai T, Yang Z, Nie L, Zhen J, Deng L, Zhou Z. Association between vitamin D receptor BsmI gene polymorphism and periodontitis: a meta-analysis in a single ethnic group. Cell Mol Biol (Noisy-le-grand). 2017;63:1-4 pubmed publisher
    Although many researchers have studied on the association between vitamin D receptor (VDR) BsmI polymorphism and periodontitis, this association remains elusive...
  77. Corcoran A, Bermudez M, Seoane S, Perez Fernandez R, Krupa M, Pietraszek A, et al. Biological evaluation of new vitamin D2 analogues. J Steroid Biochem Mol Biol. 2016;164:66-71 pubmed publisher
    ..They have enhanced pro-differentiating and transcription-inducing activities in AML cells. Interestingly, differentiation effects do not correlate with the affinities of the analogues to the vitamin D receptor (VDR).
  78. Mayer O, Seidlerova J, Černá V, Kučerová A, Karnosová P, Hronová M, et al. Serum Vitamin D Status, Vitamin D Receptor Polymorphism, and Glucose Homeostasis in Healthy Subjects. Horm Metab Res. 2017;: pubmed publisher
    ..of glucose homeostasis in virtually healthy subjects, and explored possible interaction with vitamin D receptor (VDR) polymorphism...
  79. Yang D, Liu Y, Chu Y, Yang Q, Jiang W, Chen F, et al. Association between vitamin D receptor gene FokI polymorphism and skeletal fluorosis of the brick-tea type fluorosis: a cross sectional, case control study. BMJ Open. 2016;6:e011980 pubmed publisher
    Brick-tea type fluorosis is a public health concern in the north west area of China. The vitamin D receptor (VDR)-FokI polymorphism is considered to be a regulator of bone metabolism and calcium resorption...
  80. Slominski A, Brozyna A, Zmijewski M, Jozwicki W, Jetten A, Mason R, et al. Vitamin D signaling and melanoma: role of vitamin D and its receptors in melanoma progression and management. Lab Invest. 2017;97:706-724 pubmed publisher
    ..Vitamin D is activated through hydroxylation by 25-hydroxylases (CYP2R1 or CYP27A1) and 1?-hydroxylase (CYP27B1) to produce 1,25(OH)2D3, or through the action of CYP11A1 to produce mono-di- and trihydroxy-D3 ..
  81. Lee K, Chung J, Yi B, Cho Y, Kim H, Lee G, et al. Influence of NR3C1 and VDR polymorphisms on stable warfarin dose in patients with mechanical cardiac valves. Int J Cardiol. 2017;236:393-397 pubmed publisher
    The aim of this study was to evaluate the associations between polymorphisms of VKORC1, CYP2C9, CYP4F2, NR3C1 and VDR genes and stable warfarin doses in Korean patients with mechanical heart valves...
  82. Ishizawa M, Akagi D, Yamamoto J, Makishima M. 1?,25-Dihydroxyvitamin D3 enhances TRPV6 transcription through p38 MAPK activation and GADD45 expression. J Steroid Biochem Mol Biol. 2017;172:55-61 pubmed publisher
    ..D3 [1,25(OH)2D3], acts as a ligand for the vitamin D receptor (VDR), and regulates various physiological processes, including calcium and bone metabolism, cellular growth and ..
  83. Guo F, Yue H, Wang L, Ding C, Wu L, Wu Y, et al. Vitamin D supplement ameliorates hippocampal metabolism in diabetic rats. Biochem Biophys Res Commun. 2017;490:239-246 pubmed publisher
    ..Neuronal nitric oxide synthase (nNOS) and vitamin D receptor (VDR) expression were measured, as well as ER stress markers, including glucose-regulated protein78 (GRP78), protein ..
  84. Soljić M, Mrklić I, Tomic S, Omrcen T, Sutalo N, Bevanda M, et al. Prognostic value of vitamin D receptor and insulin-like growth factor receptor 1 expression in triple-negative breast cancer. J Clin Pathol. 2018;71:34-39 pubmed publisher
    ..Vitamin D receptor (VDR) and insulin-like growth factor receptor 1 (IGFR) have recently been described as potential new targets for ..
  85. Bandera Merchan B, Morcillo S, Martin Nuñez G, Tinahones F, Macias Gonzalez M. The role of vitamin D and VDR in carcinogenesis: Through epidemiology and basic sciences. J Steroid Biochem Mol Biol. 2017;167:203-218 pubmed publisher
    ..both preclinical and epidemiological evidence available show oncoprotective actions of VD and its receptor, the VDR. However, in late neoplastic stages the VD system (VDS) seems to be less functional, which appears to be due to an ..