VDR

Summary

Gene Symbol: VDR
Description: vitamin D receptor
Alias: NR1I1, PPP1R163, vitamin D3 receptor, 1,25-dihydroxyvitamin D3 receptor, nuclear receptor subfamily 1 group I member 1, protein phosphatase 1, regulatory subunit 163, vitamin D (1,25- dihydroxyvitamin D3) receptor, vitamin D nuclear receptor variant 1
Species: human
Products:     VDR

Top Publications

  1. Smolders J, Damoiseaux J, Menheere P, Tervaert J, Hupperts R. Association study on two vitamin D receptor gene polymorphisms and vitamin D metabolites in multiple sclerosis. Ann N Y Acad Sci. 2009;1173:515-20 pubmed publisher
    An association of two single-nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) gene, Apal (rs7975232) and Taql (rs731236), with multiple sclerosis (MS) has been reported in a Caucasian population...
  2. Ramagopalan S, Heger A, Berlanga A, Maugeri N, Lincoln M, Burrell A, et al. A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution. Genome Res. 2010;20:1352-60 pubmed publisher
    ..However, the mode of action of vitamin D, through its cognate nuclear vitamin D receptor (VDR), and its contribution to diverse disorders, remain poorly understood...
  3. Newton Bishop J, Beswick S, Randerson Moor J, Chang Y, Affleck P, Elliott F, et al. Serum 25-hydroxyvitamin D3 levels are associated with breslow thickness at presentation and survival from melanoma. J Clin Oncol. 2009;27:5439-44 pubmed publisher
    ..01) for a 20 nmol/L increase in serum level. There was evidence of interaction between the vitamin D receptor (VDR) BsmI genotype and serum 25-hydroxyvitamin D(3) levels on RFS...
  4. Testa A, Mallamaci F, Benedetto F, Pisano A, Tripepi G, Malatino L, et al. Vitamin D receptor (VDR) gene polymorphism is associated with left ventricular (LV) mass and predicts left ventricular hypertrophy (LVH) progression in end-stage renal disease (ESRD) patients. J Bone Miner Res. 2010;25:313-9 pubmed publisher
    ..Because the BsmI vitamin D receptor VDR gene polymorphism may alter VDR function, we performed a cross-sectional and longitudinal study in a cohort of 182 ..
  5. Li K, Shi Q, Yang L, Li X, Liu L, Wang L, et al. The association of vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D levels with generalized vitiligo. Br J Dermatol. 2012;167:815-21 pubmed publisher
    ..Genetic variations within the vitamin D receptor (VDR) gene could lead to significant receptor dysfunction, and could further affect the formation of the biologically ..
  6. Yamaji T, Iwasaki M, Sasazuki S, Sakamoto H, Yoshida T, Tsugane S. Association between plasma 25-hydroxyvitamin D and colorectal adenoma according to dietary calcium intake and vitamin D receptor polymorphism. Am J Epidemiol. 2012;175:236-44 pubmed publisher
    ..D might be mediated by not only calcium metabolism but also other mechanisms initiated by vitamin D receptor (VDR)...
  7. Jorde R, Svartberg J, Joakimsen R, Grimnes G. Associations between polymorphisms related to calcium metabolism and human height: the Tromsø Study. Ann Hum Genet. 2012;76:200-10 pubmed publisher
    ..Therefore, in the present study, nine SNPs related to the vitamin D receptor (VDR) gene and serum levels of 25-hydroxyvitamin D (25(OH)D), calcium, phosphate and parathyroid hormone (PTH) were ..
  8. Andraos C, Koorsen G, Knight J, Bornman L. Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism. Hum Immunol. 2011;72:262-8 pubmed publisher
    The Vitamin D receptor (VDR) gene encodes a transcription factor which, on activation by vitamin D, modulates diverse biologic processes, including calcium homeostasis and immune function...
  9. Karami S, Brennan P, Rosenberg P, Navratilova M, Mates D, Zaridze D, et al. Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk. PLoS ONE. 2009;4:e7013 pubmed publisher
    ..Since vitamin D exerts its activity through binding to the nuclear vitamin D receptor (VDR), most genetic studies have primarily focused on variation within this gene...

More Information

Publications107 found, 100 shown here

  1. Egan J, Thompson P, Ashbeck E, Conti D, Duggan D, Hibler E, et al. Genetic polymorphisms in vitamin D receptor VDR/RXRA influence the likelihood of colon adenoma recurrence. Cancer Res. 2010;70:1496-504 pubmed publisher
    ..The biological actions of the hormonal form of vitamin D, 1,25(OH)(2)D(3), are mediated by the vitamin D receptor (VDR), which heterodimerizes with retinoid X receptors (RXR)...
  2. Rathored J, Sharma S, Singh B, Banavaliker J, Sreenivas V, Srivastava A, et al. Risk and outcome of multidrug-resistant tuberculosis: vitamin D receptor polymorphisms and serum 25(OH)D. Int J Tuberc Lung Dis. 2012;16:1522-8 pubmed publisher
    ..To investigate the association of vitamin D receptor (VDR) polymorphisms and serum 25(OH)D with susceptibility to, and response to treatment of, multidrug-resistant ..
  3. Orton S, Ramagopalan S, Para A, Lincoln M, Handunnetthi L, Chao M, et al. Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians. J Neurol Sci. 2011;305:116-20 pubmed publisher
    ..Seventy-one SNPs, across four genes [vitamin D receptor (VDR), 1-alpha-hydroxylase (CYP27B1) enzyme, vitamin D binding protein (DBP), 24-hydroxylase (CYP24)], were genotyped ..
  4. Simon K, Munger K, Xing Yang -, Ascherio A. Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. Mult Scler. 2010;16:133-8 pubmed publisher
    ..The objective of this study was to determine whether polymorphisms in VDR, CYP27B1, CYP24A1, CYP2R1 and DBP are associated with the risk of MS and whether these variants may modify ..
  5. Monticielo O, Brenol J, Chies J, Longo M, Rucatti G, Scalco R, et al. The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus. Lupus. 2012;21:43-52 pubmed publisher
    Vitamin D deficiency has been described in systemic lupus erythematosus (SLE). BsmI VDR (vitamin D receptor) gene polymorphism was associated with SLE in Asian patients. Studies in Brazilian populations have not been realized...
  6. Fedirko V, Riboli E, Tjønneland A, Ferrari P, Olsen A, Bueno de Mesquita H, et al. Prediagnostic 25-hydroxyvitamin D, VDR and CASR polymorphisms, and survival in patients with colorectal cancer in western European ppulations. Cancer Epidemiol Biomarkers Prev. 2012;21:582-93 pubmed publisher
    ..used to calculate HRs and corresponding 95% CIs according to 25(OH)D quintiles and genetic variation within the VDR and CASR genes. Potential dietary, lifestyle, and metabolic effect modifiers were also investigated...
  7. Touvier M, Chan D, Lau R, Aune D, Vieira R, Greenwood D, et al. Meta-analyses of vitamin D intake, 25-hydroxyvitamin D status, vitamin D receptor polymorphisms, and colorectal cancer risk. Cancer Epidemiol Biomarkers Prev. 2011;20:1003-16 pubmed publisher
    ..We also aimed at conducting meta-analysis of all studies on CRC and vitamin D receptor (VDR) single-nucleotide polymorphisms. Relevant studies were identified in PubMed (up to June 2010)...
  8. Randerson Moor J, Taylor J, Elliott F, Chang Y, Beswick S, Kukalizch K, et al. Vitamin D receptor gene polymorphisms, serum 25-hydroxyvitamin D levels, and melanoma: UK case-control comparisons and a meta-analysis of published VDR data. Eur J Cancer. 2009;45:3271-81 pubmed publisher
    We have carried out melanoma case-control comparisons for six vitamin D receptor (VDR) gene single nucleotide polymorphisms (SNPs) and serum 25-hydroxyvitamin D(3) levels in order to investigate the role of vitamin D in melanoma ..
  9. Engel L, Orlow I, Sima C, Satagopan J, Mujumdar U, Roy P, et al. Vitamin D receptor gene haplotypes and polymorphisms and risk of breast cancer: a nested case-control study. Cancer Epidemiol Biomarkers Prev. 2012;21:1856-67 pubmed publisher
    ..Most known effects of vitamin D are mediated via the vitamin D receptor (VDR)...
  10. 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 ..
  11. Mishra D, Wu Y, Sarkissyan M, Sarkissyan S, Chen Z, Shang X, et al. Vitamin D receptor gene polymorphisms and prognosis of breast cancer among African-American and Hispanic women. PLoS ONE. 2013;8:e57967 pubmed publisher
    Vitamin D plays a role in cancer development and acts through the vitamin D receptor (VDR)...
  12. Liu W, Chen Y, Golan M, Annunziata M, Du J, Dougherty U, et al. Intestinal epithelial vitamin D receptor signaling inhibits experimental colitis. J Clin Invest. 2013;123:3983-96 pubmed publisher
    The inhibitory effects of vitamin D on colitis have been previously documented. Global vitamin D receptor (VDR) deletion exaggerates colitis, but the relative anticolitic contribution of epithelial and nonepithelial VDR signaling is ..
  13. Wu Y, Yang X, Wang X, Qiu M, You Y, Zhang Z, et al. Association of vitamin D receptor BsmI gene polymorphism with risk of tuberculosis: a meta-analysis of 15 studies. PLoS ONE. 2013;8:e66944 pubmed publisher
    Genetic variations in vitamin D receptor (VDR) may contribute to tuberculosis (TB) risk. Many studies have investigated the association between VDR BsmI gene polymorphism and TB risk, but yielded inconclusive results...
  14. Handel A, Sandve G, Disanto G, Berlanga Taylor A, Gallone G, Hanwell H, et al. Vitamin D receptor ChIP-seq in primary CD4+ cells: relationship to serum 25-hydroxyvitamin D levels and autoimmune disease. BMC Med. 2013;11:163 pubmed publisher
    ..ChIP-seq experiments using immune cell lines have shown that vitamin D receptor (VDR) binding sites are enriched near regions of the genome associated with autoimmune diseases...
  15. González Mercado A, Sánchez López J, Regla Nava J, Gamez Nava J, Gonzalez Lopez L, Duran Gonzalez J, et al. Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women. Genet Mol Res. 2013;12:2755-63 pubmed publisher
    We investigated associations between vitamin D receptor (VDR) gene polymorphisms, FokI T>C (rs2228570), BsmI G>A (rs1544410), ApaI G>T (rs7975232), and TaqI T>C (rs731236), with bone mineral density (BMD) in postmenopausal ..
  16. Marozik P, Mosse I, Alekna V, Rudenko E, Tamulaitiene M, Ramanau H, et al. Association Between Polymorphisms of VDR, COL1A1, and LCT genes and bone mineral density in Belarusian women with severe postmenopausal osteoporosis. Medicina (Kaunas). 2013;49:177-84 pubmed
    ..The aim of this study was to analyze the association between the polymorphisms of the vitamin D receptor (VDR), type I collagen (COL1A1), and lactase (LCT) genes and severe postmenopausal osteoporosis as well as bone mineral ..
  17. Perna L, Hoffmeister M, Schöttker B, Arndt V, Haug U, Holleczek B, et al. Vitamin D receptor polymorphism and colorectal cancer-specific and all-cause mortality. Cancer Epidemiol. 2013;37:905-7 pubmed publisher
    The vitamin D receptor (VDR) gene is present in colorectal cancer (CRC) cells and its genetic variants have been associated with an increased risk of CRC. The association with colorectal cancer prognosis remains widely unexplored.
  18. Oh J, Byun S, Lee S, Hong S, Jeong C, Kim D, et al. Genetic variations in VDR associated with prostate cancer risk and progression in a Korean population. Gene. 2014;533:86-93 pubmed publisher
    Low levels of vitamin D are implicated as a potential risk factor for prostate cancer, and the vitamin D receptor (VDR) gene may be important in the onset and progression of prostate cancer...
  19. Gu H, Wang X, Zheng L, Tang W, Dong C, Wang L, et al. Vitamin D receptor gene polymorphisms and esophageal cancer risk in a Chinese population: a negative study. Med Oncol. 2014;31:827 pubmed publisher
    Vitamin D receptor (VDR) gene polymorphisms have been reported to influence susceptibility to some malignant cancers...
  20. Rojano Mejía D, Coral Vázquez R, Coronel A, Cortes Espinosa L, del Carmen Aguirre García M, Valencia Villalvazo E, et al. Relation of the estrogen receptor and vitamin D receptor polymorphisms with bone mineral density in postmenopausal Mexican-mestizo women. Gene. 2014;537:10-4 pubmed publisher
    ..and environmental factors, the aim of this study was to analyze the possible association among one polymorphism of VDR and two polymorphisms of ESR1; as well as their haplotypes with BMD in postmenopausal Mexican-mestizo women...
  21. Sarkissyan M, Wu Y, Chen Z, Mishra D, Sarkissyan S, Giannikopoulos I, et al. Vitamin D receptor FokI gene polymorphisms may be associated with colorectal cancer among African American and Hispanic participants. Cancer. 2014;120:1387-93 pubmed publisher
    Vitamin D plays a role in cancer tumorogenesis and acts through the vitamin D receptor (VDR). Although African Americans have the lowest serum vitamin D levels, supplementation has not yielded a significant improvement in cancer...
  22. El Ezzi A, Zaidan W, El Saidi M, Al Ahmadieh N, Mortenson J, Kuddus R. Association of benign prostate hyperplasia with polymorphisms in VDR, CYP17, and SRD5A2 genes among Lebanese men. Asian Pac J Cancer Prev. 2014;15:1255-62 pubmed
    ..any associations between benign prostate hyperplasia (BPH) and single nucleotide polymorphisms (SNPs) in the VDR gene (FokI, BsmI, ApaI and Taq?I loci) and the CYP17 gene (MspA1I locus), as well as TA repeat polymorphism in ..
  23. Arji N, Busson M, Iraqi G, Bourkadi J, Benjouad A, Bouayad A, et al. Genetic diversity of TLR2, TLR4, and VDR loci and pulmonary tuberculosis in Moroccan patients. J Infect Dev Ctries. 2014;8:430-40 pubmed publisher
    Toll-like receptors (TLRs) 2, 4, and the vitamin D receptor (VDR) are central components of the innate and adaptive immunity against Mycobacterium tuberculosis (Mtb)...
  24. Zhang K, Song L. Association between vitamin D receptor gene polymorphisms and breast cancer risk: a meta-analysis of 39 studies. PLoS ONE. 2014;9:e96125 pubmed publisher
    The associations between vitamin D receptor (VDR) gene polymorphisms and breast cancer risk were comprehensively investigated to clarify issues that remain controversial...
  25. Zhao X, Yang B, Yu G, Liu S, Yuan Z. Polymorphisms in the vitamin D receptor (VDR) genes and skin cancer risk in European population: a meta-analysis. Arch Dermatol Res. 2014;306:545-53 pubmed publisher
    There have been a few epidemiological studies reporting VDR polymorphisms including Fok1, Bsm1, Apa1 and Taq1 with skin cancer incidence and, therefore, risk. The results, however, are controversial, often due to smaller sample size...
  26. Colombini A, Brayda Bruno M, Lombardi G, Croiset S, Vrech V, Maione V, et al. FokI polymorphism in the vitamin D receptor gene (VDR) and its association with lumbar spine pathologies in the Italian population: a case-control study. PLoS ONE. 2014;9:e97027 pubmed publisher
    Alterations in vitamin D homeostasis, mainly involving its nuclear receptor (VDR), could have a role in the pathophysiology of the spine...
  27. Rasool S, Kadla S, Rasool V, Qazi F, Khan T, Shah N, et al. Role of the VDR Bsm I and Apa I polymorphisms in the risk of colorectal cancer in Kashmir. Oncol Res Treat. 2014;37:345-9 pubmed publisher
    ..We conclude that Apa I and Bsm I single-nucleotide polymorphisms (SNPs) in the vitamin D receptor gene (VDR) might be associated with susceptibility to CRC among Kashmiris.
  28. Kaabachi W, Kaabachi S, Rafrafi A, Amor A, Tizaoui K, Haj Sassi F, et al. Association of vitamin D receptor FokI and ApaI polymorphisms with lung cancer risk in Tunisian population. Mol Biol Rep. 2014;41:6545-53 pubmed publisher
    Many studies reported that Vitamin D Receptor (VDR) gene polymorphisms might influence the cancer risk due to their antiproliferative, antiangiogenic, and apoptotic effects...
  29. Handoko H, Nancarrow D, Mowry B, McGrath J. Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures. Am J Hum Biol. 2006;18:415-7 pubmed
    ..This study examines the association between four polymorphisms in the vitamin D receptor (VDR) and 1) risk of schizophrenia, and 2) three anthropometric variables (height, head size, and head shape)...
  30. Windelinckx A, De Mars G, Beunen G, Aerssens J, Delecluse C, Lefevre J, et al. Polymorphisms in the vitamin D receptor gene are associated with muscle strength in men and women. Osteoporos Int. 2007;18:1235-42 pubmed
    Vitamin D receptor (VDR) polymorphisms have been associated with fracture risk and muscle strength, although evidence for the latter is limited and conflicting. BsmI, TaqI and FokI VDR polymorphisms were genotyped in 253 men (54.9 +/- 10...
  31. Kommagani R, Leonard M, Lewis S, Romano R, Sinha S, Kadakia M. Regulation of VDR by deltaNp63alpha is associated with inhibition of cell invasion. J Cell Sci. 2009;122:2828-35 pubmed publisher
    ..Here, we studied whether the regulation of VDR by DeltaNp63alpha controls the invasiveness of an epidermoid cancer cell line...
  32. Malloy P, Eccleshall T, Gross C, Van Maldergem L, Bouillon R, Feldman D. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J Clin Invest. 1997;99:297-304 pubmed
    Mutations in the vitamin D receptor (VDR) result in target organ resistance to 1alpha,25-dihydroxyvitamin D [1,25(OH)2D3], the active form of vitamin D, and cause hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR)...
  33. Taniyama M, Ban Y. Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population. J Clin Endocrinol Metab. 2000;85:4639-43 pubmed
    ..We recently described the association of GD with the vitamin D receptor (VDR) exon 2 initiation codon (VDR-FOK:I) polymorphism...
  34. Partridge J, Weatherby S, Woolmore J, Highland D, Fryer A, Mann C, et al. Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genes. Neurology. 2004;62:2323-5 pubmed
    ..The authors investigated in 419 cases and 422 controls if polymorphism in the vitamin D receptor (VDR), melanocortin-1 receptor (MC1R), and tyrosinase (TYR) genes is linked with MS risk and outcome...
  35. Hefler L, Tempfer C, Grimm C, Lebrecht A, Ulbrich E, Heinze G, et al. Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women. Cancer. 2004;101:264-9 pubmed
    ..Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women. ..
  36. Alimirah F, Peng X, Murillo G, Mehta R. Functional significance of vitamin D receptor FokI polymorphism in human breast cancer cells. PLoS ONE. 2011;6:e16024 pubmed publisher
    The FokI vitamin D receptor (VDR) polymorphism results in different translation initiation sites on VDR...
  37. Huang J, Xie Z. Polymorphisms in the vitamin D receptor gene and multiple sclerosis risk: a meta-analysis of case-control studies. J Neurol Sci. 2012;313:79-85 pubmed publisher
    The vitamin D receptor (VDR) polymorphisms have been reported to be associated with multiple sclerosis (MS), however, evidence remains conflicting. A meta-analysis was conducted to investigate this association...
  38. Ramos Lopez E, Kurylowicz A, Bednarczuk T, Paunkovic J, Seidl C, Badenhoop K. Vitamin D receptor polymorphisms are associated with Graves' disease in German and Polish but not in Serbian patients. Thyroid. 2005;15:1125-30 pubmed
    Diverse genes are candidates for susceptibility to Graves' disease, including the vitamin D receptor (VDR), which regulates the transcription of target genes in response to the active metabolite 1,25(OH)(2)D(3)...
  39. Lau H, Ng M, Cheung W, Paterson A, Sham P, Luk K, et al. Assessment of linkage and association of 13 genetic loci with bone mineral density. J Bone Miner Metab. 2006;24:226-34 pubmed
    ..The effect of each polymorphism on BMD variance ranged from 1% to 4%. In conclusion, ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females. ..
  40. Zhou W, Heist R, Liu G, Neuberg D, Asomaning K, Su L, et al. Polymorphisms of vitamin D receptor and survival in early-stage non-small cell lung cancer patients. Cancer Epidemiol Biomarkers Prev. 2006;15:2239-45 pubmed
    ..Here, we investigated the associations of vitamin D receptor (VDR) polymorphisms of Cdx-2 G>A, FokI C>T, and BsmI C>T with overall survival (OS) and recurrence-free ..
  41. Karray E, Ben Dhifallah I, Ben Abdelghani K, Ben Ghorbel I, Khanfir M, Houman H, et al. Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet's disease in Tunisians. Joint Bone Spine. 2012;79:144-8 pubmed publisher
    ..of vitamin D suggest a need for examining allele and genotype frequencies of the vitamin D nuclear receptor gene (VDR) in patients with autoimmune diseases...
  42. Braga V, Sangalli A, Malerba G, Mottes M, Mirandola S, Gatti D, et al. Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men. Calcif Tissue Int. 2002;70:457-62 pubmed
    ..We have evaluated the relationship between polymorphisms for several candidate genes such as vitamin D receptor (VDR), collagen type Ia1 (COLIA1), and calcitonin receptor (CTR) in a sample of unrelated Italian men (n = 253, mean age ..
  43. Liu Z, Calderon J, Zhang Z, Sturgis E, Spitz M, Wei Q. Polymorphisms of vitamin D receptor gene protect against the risk of head and neck cancer. Pharmacogenet Genomics. 2005;15:159-65 pubmed
    ..Several polymorphisms of the vitamin D receptor (VDR) gene have been described, including a FokI restriction fragment-length polymorphism (RFLP) in exon 2 and an ..
  44. Slattery M, Herrick J, Wolff R, Caan B, Potter J, Sweeney C. CDX2 VDR polymorphism and colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2007;16:2752-5 pubmed
    Studies suggest that polymorphisms of the vitamin D receptor (VDR) gene may influence colorectal cancer risk...
  45. Wang C, Zhao H, Xiao L, Xie C, Fan W, Sun S, et al. Association between vitamin D receptor gene polymorphisms and severe chronic periodontitis in a Chinese population. J Periodontol. 2009;80:603-8 pubmed publisher
    ..Vitamin D receptor (VDR) regulates bone metabolism and inflammation-related genes, and single nucleotide polymorphisms (SNPs) in the VDR ..
  46. Yuan H, Tang Y, Liang Y, Lei L, Xiao G, Wang S, et al. Matrix metalloproteinase-3 and vitamin d receptor genetic polymorphisms, and their interactions with occupational exposure in lumbar disc degeneration. J Occup Health. 2010;52:23-30 pubmed
    ..fragments length polymorphism was used to detect the polymorphisms of MMP-3 (matrix metalloproteinase-3)(rs731236), VDR-Taq (vitamin D receptor-Taq) and VDR-Apa (vitamin D receptor-Apa)(rs35068180)...
  47. Zajickova K, Zofkova I, Bahbouh R, Krepelova A. Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: FokI genotype is related to postmenopausal bone mass. Physiol Res. 2002;51:501-9 pubmed
    The relationship between vitamin D receptor (VDR) intragenic polymorphisms FokI, BsmI, ApaI and TaqI and bone mineral density (BMD) or biochemical markers of bone remodeling were investigated in 114 Czech postmenopausal women, on the ..
  48. Halsall J, Osborne J, Potter L, Pringle J, Hutchinson P. A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma. Br J Cancer. 2004;91:765-70 pubmed
    ..025) and the Fok 1 variant enhanced the effect of the A allele of the A-1012G polymorphism on metastasis, the probability of metastasis for AAff at 5 years follow-up being 57%, CI 24-92%. ..
  49. Oakley Girvan I, Feldman D, Eccleshall T, Gallagher R, Wu A, Kolonel L, et al. Risk of early-onset prostate cancer in relation to germ line polymorphisms of the vitamin D receptor. Cancer Epidemiol Biomarkers Prev. 2004;13:1325-30 pubmed
    ..We examined associations between prostate cancer risk and five polymorphisms in the VDR gene: four single nucleotide polymorphisms (FokI, BsmI, ApaI, and TaqI restriction sites) and the polyadenylic acid ..
  50. Morita A, Iki M, Dohi Y, Ikeda Y, Kagamimori S, Kagawa Y, et al. Prediction of bone mineral density from vitamin D receptor polymorphisms is uncertain in representative samples of Japanese Women. The Japanese Population-based Osteoporosis (JPOS) Study. Int J Epidemiol. 2004;33:979-88 pubmed
    Vitamin D receptor (VDR) gene polymorphisms have been inconsistently associated with bone mineral density (BMD)...
  51. Seremak Mrozikiewicz A, Drews K, Mrozikiewicz P, Bartkowiak Wieczorek J, Marcinkowska M, Wawrzyniak A, et al. Correlation of vitamin D receptor gene (VDR) polymorphism with osteoporotic changes in Polish postmenopausal women. Neuro Endocrinol Lett. 2009;30:540-6 pubmed
    ..Much attention to the polymorphic variants of vitamin D receptor (VDR) gene was paid...
  52. Ji G, Yao M, Sun C, Li Z, Han Z. BsmI, TaqI, ApaI and FokI polymorphisms in the vitamin D receptor (VDR) gene and risk of fracture in Caucasians: a meta-analysis. Bone. 2010;47:681-6 pubmed publisher
    Vitamin D receptor (VDR) gene polymorphisms have been strongly associated with bone mineral density in some studies...
  53. Orlow I, Roy P, Reiner A, Yoo S, Patel H, Paine S, et al. Vitamin D receptor polymorphisms in patients with cutaneous melanoma. Int J Cancer. 2012;130:405-18 pubmed publisher
    The vitamin D receptor (VDR) gene has been associated with cancer risk, but only a few polymorphisms have been studied in relation to melanoma risk and the results have been inconsistent...
  54. Gyorffy B, Vasarhelyi B, Krikovszky D, Madacsy L, Tordai A, Tulassay T, et al. Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus. Eur J Endocrinol. 2002;147:803-8 pubmed
    Recent data have indicated the significance of vitamin D receptor (VDR) polymorphisms in type 1 diabetes mellitus (T1DM)...
  55. Gapska P, Scott R, Serrano Fernandez P, Huzarski T, Byrski T, Kładny J, et al. Vitamin D receptor variants and breast cancer risk in the Polish population. Breast Cancer Res Treat. 2009;115:629-33 pubmed publisher
    The aim of the study was to determine whether four VDR gene single nucleotide polymorphisms (SNPs: rs1544410, rs731236, rs10735810 and rs4516035) are associated with breast cancer risk in Polish population...
  56. Krieg E, Butler M, Chang M, Liu T, Yesupriya A, Dowling N, et al. Lead and cognitive function in VDR genotypes in the third National Health and Nutrition Examination Survey. Neurotoxicol Teratol. 2010;32:262-72 pubmed publisher
    The relationship between the blood lead concentration and cognitive function in children and adults with different VDR genotypes who participated in the third National Health and Nutrition Examination Survey was investigated...
  57. Arjumand W, Ahmad S, Seth A, Saini A, Sultana S. Vitamin D receptor FokI and BsmI gene polymorphism and its association with grade and stage of renal cell carcinoma in North Indian population. Tumour Biol. 2012;33:23-31 pubmed publisher
    Vitamin D exerts its activity through binding to the high-affinity nuclear vitamin D receptor (VDR), and majority of genetic studies have primarily focused on variation within this gene...
  58. Videman T, Gibbons L, Battié M, Maravilla K, Vanninen E, Leppävuori J, et al. The relative roles of intragenic polymorphisms of the vitamin d receptor gene in lumbar spine degeneration and bone density. Spine (Phila Pa 1976). 2001;26:E7-E12 pubmed
  59. Buyru N, Tezol A, Yosunkaya Fenerci E, Dalay N. Vitamin D receptor gene polymorphisms in breast cancer. Exp Mol Med. 2003;35:550-5 pubmed
    ..The vitamin D receptor (VDR) gene is a member of the nuclear receptor superfamily, which is expressed in breast tissue and known to modulate ..
  60. Tang C, Chen N, Wu M, Yuan H, Du Y. Fok1 polymorphism of vitamin D receptor gene contributes to breast cancer susceptibility: a meta-analysis. Breast Cancer Res Treat. 2009;117:391-9 pubmed publisher
    Several polymorphisms in the vitamin D receptor (VDR) gene have been reported to influence breast cancer risk. However, the published findings have been conflicting...
  61. Chokkalingam A, McGlynn K, Gao Y, Pollak M, Deng J, Sesterhenn I, et al. Vitamin D receptor gene polymorphisms, insulin-like growth factors, and prostate cancer risk: a population-based case-control study in China. Cancer Res. 2001;61:4333-6 pubmed
    Operating through the vitamin D receptor (VDR), vitamin D inhibits prostate cancer growth and increases insulin-like growth factor binding protein (IGFBP) expression, suggesting that the vitamin D and insulin-like growth factor (IGF) ..
  62. Bretherton Watt D, Given Wilson R, Mansi J, Thomas V, Carter N, Colston K. Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population. Br J Cancer. 2001;85:171-5 pubmed
    ..The actions of vitamin D are mediated via the vitamin D receptor (VDR)...
  63. Granchi D, Stea S, Sudanese A, Toni A, Baldini N, Giunti A. Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia. Clin Orthop Relat Res. 2002;:108-17 pubmed
    ..These results indicate that genetic markers could contribute to the understanding of the natural history of this disease. ..
  64. Cheteri M, Stanford J, Friedrichsen D, Peters M, Iwasaki L, Langlois M, et al. Vitamin D receptor gene polymorphisms and prostate cancer risk. Prostate. 2004;59:409-18 pubmed
    ..Hormone activity requires binding to the vitamin D receptor (VDR), which contains several genetic polymorphisms that have been associated with risk of prostate cancer...
  65. Slattery M, Neuhausen S, Hoffman M, Caan B, Curtin K, Ma K, et al. Dietary calcium, vitamin D, VDR genotypes and colorectal cancer. Int J Cancer. 2004;111:750-6 pubmed
    The vitamin D receptor (VDR) may importantly modulate risk of colorectal cancer either independently or in conjunction with calcium and vitamin D intake...
  66. Fang Y, van Meurs J, d Alesio A, Jhamai M, Zhao H, Rivadeneira F, et al. Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am J Hum Genet. 2005;77:807-23 pubmed
    Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent...
  67. Andersson P, Varenhorst E, Söderkvist P. Androgen receptor and vitamin D receptor gene polymorphisms and prostate cancer risk. Eur J Cancer. 2006;42:2833-7 pubmed
    ..region in exon 1 of the androgen receptor (AR) and the TaqI polymorphism in exon 9 of the vitamin D receptor (VDR) and the association with prostate cancer...
  68. Olesen R, Wejse C, Velez D, Bisseye C, Sodemann M, Aaby P, et al. DC-SIGN (CD209), pentraxin 3 and vitamin D receptor gene variants associate with pulmonary tuberculosis risk in West Africans. Genes Immun. 2007;8:456-67 pubmed
    We investigated the role of DC-SIGN (CD209), long pentraxin 3 (PTX3) and vitamin D receptor (VDR) gene single nucleotide polymorphisms (SNPs) in susceptibility to pulmonary tuberculosis (TB) in 321 TB cases and 347 healthy controls from ..
  69. Roth D, Jones A, Prosser C, Robinson J, Vohra S. Vitamin D receptor polymorphisms and the risk of acute lower respiratory tract infection in early childhood. J Infect Dis. 2008;197:676-80 pubmed publisher
    To investigate associations of 2 vitamin D receptor (VDR) gene polymorphisms and acute lower respiratory tract infection (ALRI), we compared 56 young children hospitalized with ALRI and 64 children without a history of ALRI...
  70. Jehan F, Voloc A, Esterle L, Walrant Debray O, Nguyen T, Garabedian M. Growth, calcium status and vitamin D receptor (VDR) promoter genotype in European children with normal or low calcium intake. J Steroid Biochem Mol Biol. 2010;121:117-20 pubmed publisher
    Calcium homeostasis and bone metabolism require the vitamin D receptor (VDR) to function properly, as evidenced in patients and transgenic mice with VDR mutations...
  71. Slattery M, Wolff R, Herrick J, Caan B, Samowitz W. Calcium, vitamin D, VDR genotypes, and epigenetic and genetic changes in rectal tumors. Nutr Cancer. 2010;62:436-42 pubmed publisher
    Calcium, vitamin D, exposure to sunshine, and vitamin D receptor (VDR) genotypes have been associated rectal cancer...
  72. Oda Y, Chalkley R, Burlingame A, Bikle D. The transcriptional coactivator DRIP/mediator complex is involved in vitamin D receptor function and regulates keratinocyte proliferation and differentiation. J Invest Dermatol. 2010;130:2377-88 pubmed publisher
    ..We investigated the role of the mediator complex as a coactivator for vitamin D receptor (VDR) in keratinocytes...
  73. Cox M, Ban M, Bowden N, Baker A, Scott R, Lechner Scott J. Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis. Mult Scler. 2012;18:16-22 pubmed publisher
    ..We examined two common variants in the vitamin D receptor (VDR) gene in 1153 trio families and 726 cases and 604 controls...
  74. Perna L, Butterbach K, Haug U, Schöttker B, Muller H, Arndt V, et al. Vitamin D receptor genotype rs731236 (Taq1) and breast cancer prognosis. Cancer Epidemiol Biomarkers Prev. 2013;22:437-42 pubmed publisher
    ..that the anticancerogenous effects of vitamin D might be modulated by genetic variants in the vitamin D receptor (VDR) gene...
  75. Castillo A, Jimenez Lara A, Tolon R, Aranda A. Synergistic activation of the prolactin promoter by vitamin D receptor and GHF-1: role of the coactivators, CREB-binding protein and steroid hormone receptor coactivator-1 (SRC-1). Mol Endocrinol. 1999;13:1141-54 pubmed
    ..We have analyzed the role of GHF-1 and of the vitamin D receptor (VDR) to confer vitamin D responsiveness to the PRL promoter...
  76. Leo C, Li H, Chen J. Differential mechanisms of nuclear receptor regulation by receptor-associated coactivator 3. J Biol Chem. 2000;275:5976-82 pubmed
    ..We found that the vitamin D receptor (VDR) and estrogen receptor beta interact with different alpha-helical LXXLL motifs of RAC3...
  77. Lau E, Lam V, Li M, Ho K, Woo J. Vitamin D receptor start codon polymorphism (Fok I) and bone mineral density in Chinese men and women. Osteoporos Int. 2002;13:218-21 pubmed
    ..05 by the chi-square test). We conclude that the Fok I polymorphism may have a weak effect on the BMD of elderly Chinese women. ..
  78. Gong Y, Xie D, Deng Z, Bostick R, Miao X, Zhang J, et al. Vitamin D receptor gene Tru9I polymorphism and risk for incidental sporadic colorectal adenomas. World J Gastroenterol. 2005;11:4794-9 pubmed
    ..Its function is partially mediated by the vitamin D receptor (VDR)...
  79. Gunes S, Bilen C, Kara N, Asci R, Bagci H, Yilmaz A. Vitamin D receptor gene polymorphisms in patients with urolithiasis. Urol Res. 2006;34:47-52 pubmed
    ..This study represents an investigation of the role of vitamin D receptor (VDR) gene polymorphisms (ApaI, BsmI, and TaqI) and combined genotypes in urolithiasis in a Turkish population...
  80. Sakulpipatsin W, Verasertniyom O, Nantiruj K, Totemchokchyakarn K, Lertsrisatit P, Janwityanujit S. Vitamin D receptor gene BsmI polymorphisms in Thai patients with systemic lupus erythematosus. Arthritis Res Ther. 2006;8:R48 pubmed
    The immunomodulatory role of 1,25-dihydroxyvitamin D3 is well known. An association between vitamin D receptor (VDR) gene BsmI polymorphisms and systemic lupus erythematosus (SLE) has been reported...
  81. Gocek E, Kiełbiński M, Marcinkowska E. Activation of intracellular signaling pathways is necessary for an increase in VDR expression and its nuclear translocation. FEBS Lett. 2007;581:1751-7 pubmed
    1,25-Dihydroxyvitamin D(3) (1,25D) regulates gene transcription through the nuclear vitamin D receptor (VDR) and initiates rapid cellular responses via an unknown mechanism...
  82. John E, Schwartz G, Koo J, Wang W, Ingles S. Sun exposure, vitamin D receptor gene polymorphisms, and breast cancer risk in a multiethnic population. Am J Epidemiol. 2007;166:1409-19 pubmed
    ..associations of breast cancer with sun exposure, the principal source of vitamin D, and vitamin D receptor gene (VDR) polymorphisms (FokI, TaqI, BglI) in a population-based case-control study of Hispanic, African-American, and non-..
  83. Chi Y, Hong Y, Zong H, Wang Y, Zou W, Yang J, et al. CDK11p58 represses vitamin D receptor-mediated transcriptional activation through promoting its ubiquitin-proteasome degradation. Biochem Biophys Res Commun. 2009;386:493-8 pubmed publisher
    Vitamin D receptor (VDR) is a member of the nuclear receptor superfamily and regulates transcription of target genes. In this study, we identified CDK11(p58) as a novel protein involved in the regulation of VDR...
  84. Karami S, Brennan P, Navratilova M, Mates D, Zaridze D, Janout V, et al. Vitamin d pathway genes, diet, and risk of renal cell carcinoma. Int J Endocrinol. 2010;2010:879362 pubmed publisher
    Mediated by binding to the high-affinity vitamin D receptor (VDR), vitamin D forms a heterodimer complex with the retinoid-X-receptor (RXR). Variation in both genes has been shown to modify renal cell carcinoma (RCC) risk...
  85. Suh K, Eun I, Lee J. Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis. Eur Spine J. 2010;19:1545-50 pubmed publisher
    ..However, no study has yet linked polymorphisms in the vitamin D receptor (VDR) gene and bone mass in AIS...
  86. Torres C, Sánchez de la Torre M, Garcia Moruja C, Carrero A, Trujillo M, Fibla J, et al. Immunophenotype of vitamin D receptor polymorphism associated to risk of HIV-1 infection and rate of disease progression. Curr HIV Res. 2010;8:487-92 pubmed
    Vitamin-D-receptor (VDR) mediates immunomodulatory effects of vitamin-D? (VD?). The VDR-rs1544410_GG polymorphism has been associated with delayed progression rates to AIDS and resistance to HIV-1 infection...
  87. Sioka C, Papakonstantinou S, Markoula S, Gkartziou F, Georgiou A, Georgiou I, et al. Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece. J Negat Results Biomed. 2011;10:3 pubmed publisher
    Polymorphisms of the vitamin D receptor (VDR) gene have been linked to both multiple sclerosis (MS) and osteoporosis...
  88. Qin G, Dong Z, Zeng P, Liu M, Liao X. Association of vitamin D receptor BsmI gene polymorphism with risk of osteoporosis: a meta-analysis of 41 studies. Mol Biol Rep. 2013;40:497-506 pubmed publisher
    Vitamin D receptor (VDR) BsmI gene polymorphism has been reported to be strongly associated with osteoporosis risk in some studies. However, the results from those studies are still conflicting...
  89. Kim J, Lim K, Kim E, Choi Y, Lee J. Association of vitamin D receptor and estrogen receptor gene polymorphisms with bone mass in postmenopausal Korean women. Menopause. 2001;8:222-8 pubmed
    To examine the relationship between vitamin D receptor (VDR) and estrogen receptor (ER) gene polymorphism and bone mineral density (BMD)...
  90. Laaksonen M, Kärkkäinen M, Outila T, Vanninen T, Ray C, Lamberg Allardt C. Vitamin D receptor gene BsmI-polymorphism in Finnish premenopausal and postmenopausal women: its association with bone mineral density, markers of bone turnover, and intestinal calcium absorption, with adjustment for lifestyle factors. J Bone Miner Metab. 2002;20:383-90 pubmed
    ..Several studies have indicated that the vitamin D receptor ( VDR) gene has a role in the regulation of BMD and bone metabolism, but the results are very controversial...
  91. Poon A, Laprise C, Lemire M, Montpetit A, Sinnett D, Schurr E, 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 pubmed
    ..linkages on 17 different chromosomes, including chromosome 12, region q13-23, housing the vitamin D receptor (VDR) gene...
  92. Raby B, Lazarus R, Silverman E, Lake S, Lange C, Wjst M, et al. Association of vitamin D receptor gene polymorphisms with childhood and adult asthma. Am J Respir Crit Care Med. 2004;170:1057-65 pubmed
    Vitamin D receptor (VDR) polymorphisms have been associated with several immune-related diseases, and VDR and vitamin D itself modulate T cell differentiation. VDR maps to chromosome 12q, near a region commonly linked to asthma...