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Validated All-in-One™ qPCR Primer for VDR(NM_001017535.2) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq].
Gene References into function
- These data suggest that BsmI VDR polymorphism does not play an important role in the bone loss seen in hypercalciuric CSF patients.
- critical role of helix 12 of the vitamin D3 receptor for the partial agonism of carboxylic ester antagonist, ZK159222
- transactivation modulated by a central dinucleotide within vitamin D response elements
- Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus.
- Stat1-vitamin D receptor interactions antagonize 1,25-dihydroxyvitamin D transcriptional activity and enhance stat1-mediated transcription.
- A clinically significant relationship between VDR and ER genotypes and biochemical markers of bone turnover or serum lipoproteins could not be demonstrated in healthy Danish postmenopausal women
- Regulation of calbindin-D9k expression by 1,25-dihydroxyvitamin D(3) and parathyroid hormone in mouse primary renal tubular cells
- polymorphism and risk of severe diabetic retinopathy.
- data support the VDR gene as a quantitative trait locus(QTL)underlying spine bone mineral density variation
- vitamin D receptor is required for the initiation of the postnatal hair follicular cycle
- its genetic polymorphism determines bone mineral density
- regulates expression of CYP3A4, CYP2B6, and CYP2C9 in hepatocytes
- polymorphism in type 1 diabetics in a Romanian population
- functions as a receptor for the secondary bile acid lithocholic acid (LCA)
- results suggest that the vitamin D receptor Fok I start codon polymorphism is not related to patients with systemic lupus erythematosus in Taiwan
- investigation of the genetic influence of Sp1 polymorphism on bone density in Irish women
- levels in relation to vitamin D status, insulin secretory capacity, and VDR genotype in Bangladeshi Asians.
- There is an association between genotype and age of onset in juvenile Japanese patients with type 1 diabetes.
- The VDR genotype contributes to the liver dysfunction in patients with psoriasis, although no correlation was found between VDR genotype and the skin eruptions of psoriasis.
- retinoid X receptor regulates vitamin D receptor functions in part by regulating subcellular localization
- alteration of cellular phosphorylation state affects vitamin D receptor-mediated CYP3A4 mRNA induction in Caco-2 cells
- expression is increased in ovarian carcinomas as compared to normal ovarian tissue
- contribution of VDR genotypes to prostate cancer susceptibility might depend on the population studied and its geographic localization; VDR genotypes are important in the definition of the genetic risk profile of populations of southern Europe
- This is the first report of an association between VDR gene polymorphism and psoriasis in a Caucasian population.
- Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.
- removal of the insertion domain between helices 2 and 3 of the receptor does not markedly influence the functionality of the Vitamin d receptor.
- Determination of VDR genotype by analysis of BsmI endonuclease gene polymorphism may predict both hemoglobin level and erythropoietin requirement in hemodialysis patients with anemia.
- Despite a slight increase in the number of urinary tract infections among children with the BB genotype for the vitamin D receptor, there is no statistically significant correlation with genetic susceptibility.
- the VDR genotype polymorphism affects bone density of renal transplant recipients via its effects on the severity of secondary hyperparathyroidism.
- vitamin D receptor (VDR) gene polymorphism, which locates at the translation initiation site, matters in the adaptations of bone to long-term impact loading.
- Association of vitamin D receptor gene polymorphism with renal cell carcinoma in Japanese.
- A novel mutation in helix 12 of this receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
- Polymorphisms of VDR gene are associated with Japanese patients with psoriasis vulgaris. Allelic variance in the VDR gene or other genes in linkage disequilibrium with this gene might predispose to the development of psoriasis vulgaris.
- associations between BsmI-polymorphism of the VDR gene and bone mineral density and bone metabolism in 24 premenopausal (aged 22-45 years) and 69 postmenopausal (aged 48-65 years) Finnish women
- Novel mutation in the VDR, Q317X, is the molecular defect in a patient with 1,25-dihydroxyvitamin D resistant rickets
- the FokI genotype of the vitamin D receptor gene is related to bone mass at the hip in Czech postmenopausal women, whereas the importance of remaining VDR genotypes was not evident.
- VDR polymorphisms are associated with increased risk of type 1 diabetes in the Dalmatian population of South Croatia.
- Data suggest that 1,25-dihydroxyvitamin D(3) actions on normal prostate cells may be mediated independently through androgen receptors and vitamin D receptors.
- (is this the right receptor?) Start codon polymorphism is an independent predictor of lumbar, but not femoral neck bone density.
- The VDR genotype seems to slow the progression of secondary hyperparathyroidism needing parathyroidectomy in patients treated with hemodialysis.
- VDR was expressed in all pancreatic cancers studied.
- marked decreases in vitamin D receptor and calcium-sensing receptor expression could be responsible for the high proliferation of parathyroid cells and the pathological progression of hyperparathyroidism
- VDR polymorphism is associated with oral bone loss, clinical attachment loss, and tooth loss in older men
- Significant association between VDR genotype and postmenopausal osteoporosis in Chinese women was observed in this study.
- human hepatocytes express very low VDR(n) messenger RNA (mRNA) and protein levels.
- VDR gene polymorphisms may jointly influence bone mass and the rate of bone loss in older African-American women--
- VDR genotype determination may provide a tool to identify individuals who are at risk for calcium nephrolithiasis.
- a previtamin D3 analog with genomic activities equivalent to 1,25(OH)2D3
- association between the VDR gene polymorphism and type 1 diabetes and the onset pattern.
- the VDR gene constitutes a locus for reduced bone mineral density in men.
- VDR polymorphism do not play a major role in rheumatoid arthritis predisposition in german patients.
- We found VDR genotype to be associated with frame size and bone mineral apparent density(BMAD)but the VDR genotype effects on stature and bone size seem to neutralize the effect on areal BMD.
- Data show that the Achang and Han ethnic groups differ in the frequency distribution of VDR gene start codon polymorphism.
- interaction between ERalpha and vitamin D receptor gene polymorphisms leads to increased risk of osteoporotic vertebral fractures in women, largely independent of bone mineral density
- ER-alpha and vitamin D receptor polymorphisms are related to bone mineral density in pre- and post-menopausal women
- in a model of neoplastic cell transformation, irradiating the MCF-10F cell line followed by treatment with estrogen led to over-expression of the VDR gene, which contained single-base mutations within intron 8 and exon 9
- Genetic variation in the vitamin D receptor gene (VDR) is associated with BMD in premenopausal women.
- For RXR heterodimerizing receptors like VDR, P-box requires redefinition and expansion to include DNA specificity element corresponding to arg-49 and lys-53 of hVDR. These residues are crucial for selective DNA recognition.
- A Cdx-2 binding site polymorphism (G to A) in the promoter region of the vitamin D receptor gene was reported. investigated the relationship between the VDR Cdx-2 genotype and risk of fracture
- Children with bone cancer are significantly taller than the reference population, which may be influenced by the genotype for the Fok I polymorphism of the VDR gene
- BsmI polymorphism of the VDR gene influences BP in healthy men. A positive relationship between serum 25-hydroxyvitamin D levels and BP is present only in men with the BB genotype.
- The VDR baTL haplotype allele is related to bone mass in Korean women.
- Subjects were genotyped for vitamine D receptor (VDR)A (ApaI), VDRB (BsmI) and VDRF (FokI) single nucleotide polymorphisms (SNPs). The SNPs analysed are unlikely to be associated with type 1 diabetes in the Finnish population.
- results suggest that 1,25-dihydroxyvitamin D3 rapid effects require the presence of vitamin D receptor and control, in part, the vitamin D catabolism via increased expression of the 24-hydroxylase and ferredoxin genes
- No relationship was observed between VDR allelic polymorphisms and osteomalacia.
- Vitamin D receptor gene polymorphism are unlikely to be a major determinants of susceptibility to prostate cancer.
- To fully determine whether sequence differences in VDR gene are susceptibility variants for type 2 diabetes mellitus, additional studies in different populations are required in a large study group.
- Results indicated that the individuals carrying the VDR B allele were more susceptible to lead poisoning.
- Result suggested the possibility that vitamin D receptor gene polymorphism might be important in determining an individual's susceptibility to development of vitamin D deficiency rickets.
- The prevalence of the VDR Taq I and Bsm I alleles and the genotype frequencies in patients with breast cancer was similar to that in the normal population
- Data describe the influence of allelic variations of the vitamin D receptor and estrogen receptor genes on bone mineral density.
- Vitamin D receptor has a role in p38 MAPK activation-selectively induced cell death in K-ras-mutated human colon cancer cells
- Suppression of Sp1 expression by small interference RNA reduced the stimulation of p27Kip1 promoter activity by vitamin D3 in prostatic cancer cells.
- VDR TaqI polymorphism is associated with a group of men with benign prostatic hyperplasia who are at an increased risk of prostate cancer
- Polymorphisms in the VDR and NRAMP1 gene are statistically associated with susceptibility to pulmonary tuberculosis in the Chinese Han population.
- resistance of acute monocytic leukemia cells to calcitriol-induced differentiation correlates with impaired nuclear localization of vitamin D receptor, but not with its total expression in the cells
- VDR polymorphism associated with the risk of developing rosacea fulminans.
- VDR genotypes may be associated with increased calcium excretion in hypercalciuric nephrolithiatic subjects.
- Lead workers with the VDR B allele had significantly (P value < 0.05) higher patella lead (on average, 25% or approximately 6.6 microg Pb/g bone mineral) than lead workers with the VDR bb genotype.
- Strong association found between genetic variants of VDR locus and asthma/atopy in Quebec cohort.
- VDR polymorphism influences asthma and allergy suscpetibility in the population of Quebec.
- VDR polymorphisms are significantly associated with the time to microbiologic resolution of pulmonary TB after initiation of DOTS protocol therapy in Peru
- transcriptional activation of VDR by 1,25-D is attenuated by the concomitant activation of ERK
- In African-Americans, the angiotensin converting enzyme, vitamin D receptor, and tumour necrosis factor-alpha genes are not significant risk factors for sarcoidosis susceptibility.
- vitamin D receptor polymorphisms did not predict pathologic features of prostate cancer but may impact on risk of recurrence among men in certain risk groups.
- Common sequence variation in the VDR gene has no major effect in type 1 diabetes.
- MONOCYTE VDR levels are elevated in idiopathic hypercalciuria calcium oxalate stone-formers
- hVDR serine-182 is a primary site for PKA phosphorylation
- significance of the family-based associations found between tuberculosis and FokI-BsmI-ApaI-TaqI and the FA haplotype supports a role for VDR haplotypes, rather than individual genotypes, in susceptibility to tuberculosis
- ApaI, & BsmI (but not FokI) polymorphisms of VDR were more common in patients with fasting idiopathic hypercalciuria & calculi, suggesting a genetic association between 3' VDR alleles, hypercalciuria, & reduced bone mass density in these patients.
- no correlation of VDR gene polymorphisms, as detected by Apal and Taql restriction fragments, in multiethnic Brazilian men (165 patients and 200 controls) with prostate cancer risk and parameters of disease severity was found
- we examine the association between VDR genotypes, BMI, physical activity, and energy intake and risk of colorectal cancer
- The vitamin D receptor is found in both neurons and glial cells of the brain in a regional and layer-specific pattern.
- There was no preferential transmission of SNPs in the VDR to children with asthma. In their unaffected sibs, however, one allele in the 5' region was 0.5-fold undertransmitted, while two alleles in the 3' terminal region were 2-fold over-transmitted.
- Experiments with a series of internal deletion mutants of human vitamin D receptor (VDR) show that the entire hinge region of VDR is required for full transcriptional activation.
- The VDR-5132 T/C SNP, resulting in potential elimination of the GATA-1 transcription factor-binding site, may increase prostate cancer susceptibility in African-Americans.
- The VDR FokI polymorphism may be a good candidate for a marker for calcium oxalate-stone disease.
- Genetic polymophisms within the VDR gene are linked to and associated with adult height variation in white populations.
- prostate cancer cell lines exhibit functional interactions between androgen receptors and VDR
- Birthweight and polymorphisms in the VDR gene were associated with the presence of lumbar spine osteophytes.
- VDR has a role in the protection of colon cells from bile acid toxicity through regulation of the Mrp3 expression
- Two VDR polymorphisms BsmI and FokI were assayed with RFLP-PCR which affect secondary hyperparathyroidism and bone density after kidney transplantation; bb genotype may exhibit a protective effect.
- Effects of VDR (Fok-I) and CTR gene polymorphism contribute to understanding of pathogenesis of urinary calculi. Potential candidate gene in search for genetic causes of paediatric calcium oxalate nephrolithiasis.
- response to both calcium and calcitriol therapy is dependent on genetic variation at the VDR locus and two loci in the VDR gene may contribute to this effect
- the VDR f and t alleles and their genotypes may protect against squamous cell carcinioma of the head and neck
- The Vitamin D receptor (VDR) belongs to a nuclear receptor super-family that mediates the genomic actions of vitamin D3 and regulates gene expression by binding with vitamin D response elements in the promoter region of the cognate gene.
- The Fok1 polymorphism of the VDR receptor seems to directly affect bone mineral accretion during pubertal growth through an effect on calcium absorption
- VDR genotypes are associated with the risk of fracture in postmenopausal women independently of bone mineral density
- PPARdelta is a primary 1alpha,25(OH)2D3-responding gene and that VDR and PPARdelta signaling pathways are interconnected at the level of cross-regulation of their respective transcription factor mRNA levels
- vitamin D receptor FokI genotype may influence femoral neck bone mineral density response to strength training , but not aerobic exercise training
- we observed, in a cohort of Caucasians with C-peptide-negative type 1 diabetes, a novel association between the functional FokI VDR polymorphism and severe diabetic retinopathy
- Vitamin D receptor-mediated transcription is stimulated by calmodulin-dependent kinase IV, which increases phosphorylation levels of VDR.
- Results show for the first time an association between Parkinson's disease (PD) and a VDR gene polymorphism, which might be involved in the pathogenesis of PD.
- the VDR start codon 27823*C allele may be linked to high risk for colorectal cancer, especially in a subset of colorectal cancers showing specific biological behaviors
- 1,25D-mediated decreases in prostate cancer cells and C81 LN cell growth are in part due to decreases in tyrosine kinase signaling that result from up-regulation of cellular prostatic acid phosphatase.
- Tru9I polymorphism may be associated with lower risk for colorectal adenoma, particularly in interaction with various risk factors, but not with calcium or vitamin D.
- upregulation of transcription is caused by cyclin D3
- Study data suggest that the F allele and F/F VDR genotype are associated with rheumatoid arthritis.
- The VDR CC genotype and COLIA1 TT genotype were associated with increased hip fracture risk in Caucasian women, and this association was independent of bone density and age.
- demonstrated that VDR has two nuclear import systems: ligand-dependent and ligand-independent pathways, and that importin 4, not importin beta, fulfills the ligand-independent nuclear transport through the interaction with the amino terminus of VDR
- TT variants of the TagI vitamin D receptor gene influence the development of hyperparathyroidism in hemodialysis patients.
- Our findings indicate that the VDR FokI polymorphism and several VDR and IL-1-R1 haplotypes are associated with susceptibility to T1DM in the Dalmatian population.
- Hairless protein functions as a corepressor of vitamin D receptor to block calcitriol action on keratinocytes.
- Polymorphisms within the vitamin D receptor gene are markers of susceptibility to or protection from autoimmune diseases, although association of variants with celiac disease and type 1 diabetes seems to be heterogeneous.
- direct interaction between the vitamin D receptor (VDR) as homodimer (without the retinoid X receptor), and the Pit-1 promoter, supporting the view that Pit-1 is a direct transcriptional target of VDR
- the VDR ApaI, BsmI, and TaqI polymorphisms do not confer a significant risk for urolithiasis
- Comparison of ApaI and Taq1 genotypes finds no relationship between vitamin D receptor gene allelic polymorphisms and osteomalacia. Whereas.
- HVDRR carriers may have compensatory elevated serum levels of 1,25(OH)2D3 through which they restrain PTH secretion.
- The possible involvement of vitamin D receptor gene polymorphisms in rheumatoid arthritis and associated osteoporosis was investigated.
- no association of the vitamin D receptor Fokl start codon polymorphism and bone density of the lumbar spine and femoral neck in patients with Crohn disease.
- VDR is a direct target of p63 and suggests that p63 may play a role in cancer and differentiation through modulation of the VDR pathway.
- VDR gene polymorphisms play a role in the etiology of symmetrical hand osteoarthritis.
- We cannot verify any association between VDR gene BsmI polymorphism and systemic lupus erythematosus.
- Taken together, our results suggest that VDR functions as the transactivation component of the VDR/Sp1 complex to trigger gene expression.
- VDR antagonists, which block the recruitment of classical coactivators, do allow VDR to interact with beta-catenin, which suggests that these and perhaps other ligands would permit those functions of the VDR that involve beta-catenin interaction.
- Results showed significantly decreased mean expression of VDR correlated with parathyroid histology.
- In light of the evidence demonstrating a role for vitamin D during brain development, the association between polymorphisms in VDR and brain development warrants closer scrutiny.
- Data show that activation of steroid and xenobiotic receptor does not induce cytochrome P450, family 24 (CYP24)-mediated expression, but inhibits vitamin D receptor-mediated CYP24 promoter activity.
- VDR polymorphism could be used as a prognostic marker for localized prostate cancer after radical prostatectomy
- It could be concluded that patients who carry the C/C homozygote of the VDR-FokI gene polymorphism in exon 2 may have a higher risk of developing Hashimoto's Thyroiditis in Chinese patients in Taiwan.
- in hyperparathyroidism after renal allograft, VDR and calcium sensing receptor index in diffuse hyperplasia was higher than uremic diffuse hyperplasia but low in nodular hyperplasia
- analysis of vitamin D receptor (VDR) binding to putative vitamin D response elements within the 5-LO promoter and analysis its function
- This is the first report of the association between vitamin D-resistant rickets, alopecia, and type 1 diabetes in a child with compound heterozygous mutations in the VDR gene.
- Overexpression of SNAIL was associated with down-regulation of VDR.
- various block C SNPs are associated with prostate cancer risk via a mechanism involving exposure to sunlight
- relationship between polymorphisms in the genes encoding the vitamin D receptor (FokI, TaqI) and estrogen receptor-alpha (PvuII, XbaI), and bone mineral density, bone mineral content, and markers of bone turnover in 224 Danish girls aged 11-12 years
- These findings suggest that an unknown serum factor modulates the transactivation function of the vitamin D receptor.
- There is no significant relationship between VDR gene Fok I or CDX2 polymorphisms and the effect of high or low doses calcium supplementation on BMD and bone turnover markers in Shanghai postmenopausal women of Han ethnicity.
- VDR gene polymorphism may be an influence factor of genetic susceptibility to HBV infection.
- identified significant linkage, which might be due to a functional SNP in the vitamin D receptor (VDR) gene and could be responsible for up to 34% of idiopathic short stature cases in the population
- In VDR/RXR heterodimers, allosteric communication triggered by the RXR ligand has a previously unrecognized role in vitamin D signalling.
- Conformational ensemble model of the VDR.
- Genetic variants (i.e., TaqI t protective allele and FokI f risk allele) in VDR may alter risk of cutaneous melanoma.
- TRPV6 expression is vitamin D dependent in men, but not in older women, where expression of TRPV6 and VDR are both reduced
- The results of our studies indicate that TX 527 inhibits TNF-alpha mediated effects on PBMC and the activation of NF-kappaB and that its action is mediated by Vitamin D receptor (VDR), which is activated when the cells are stimulated with TX 527.
- The overall data suggest that calcitriol downregulates CYP27B1 expression via a cAMP-dependent signaling pathway, whereas upregulates 24-hydroxylase gene expression through a VDR-dependent mechanism.
- The distribution of genotypic and allelic frequencies differed between hypocalcemic vitamin d resistant rickets carriers and their respective controls regarding BsmI and TaqI polymorphisms
- vitamin D receptor polymorphisms are protective in early-stage non-small cell lung cancer
- analysis of a non-classical mechanism by which VDR acts as a c-Jun/AP-1 target gene to modify c-Jun activity in stress response through increased protein expression independent of classical transcriptional regulations
- Knowing the VDR gene polymorphisms status may be helpful in preventing target organ damage in hypertensive patients.
- Variants of the VDR may confer a genetic protection from type 1 diabetes.
- Our data suggest that FokI VDR polymorphism may contribute to the determination of bone mass and turnover in both pre- and postmenopausal women in this geographically isolated population.
- VDR gene polymorphisms did not constitute a risk factor for type 2 diabetes in a Polish population.
- VDR gene variants are associated with differences in body height as evidenced by our study and by a meta-analysis.
- association between BsmI polymorphism and malignant melanoma prevalence together with Breslow thickness
- Data suggest that VDR TtFf or TTFf genotypes may protect against colorectal carcinogenesis.
- Genetic variation is related to decreasesd recombinant human erythropoietin requirement in hemodialysis patients.
- the common and potentially functional VDR translation start site polymorphism confers a modestly increased relative risk of fracture among older white women
- Among the Ache, a native Indian group in Paraguay, the Fokl F allele protects individuals from tuberculosis infection, while the Taql t allele protects against active disease but not infection.
- Coactivators in human epidermal keratinocytes differentially associate with the vitamin D receptor in proliferating versus differentiating keratinocytes. Each is required for both early and late differentiation. (Review)
- Results indicate that the relatively overexpressed VDR Hap1 haplotype could be considered a risk allele for osteoporosis regardless of ethnicity.
- VDR (Fok-I) polymorphism is associated with the risk of bladder cancer
- Different VDR gene polymorphisms are associated with quadriceps strength in men and women.
- VDR expression and its nuclear translocation in leukemia cells.
- the VDR FokI polymorphism might be important in the clinical presentation of patients with calcium urolithiasis, especially for the frequency of stone episodes and age at first onset, although it is not associated with the formation of stones
- VDR and retinoid X receptor alpha (RXRalpha) binds to the VDRE and increases PLD1 gene expression in HaCaT cells.
- In this population of men, none of the VDR polymorphisms studied was associated with susceptibility to prostatic cancer.
- No signficant association was found between pulmonary tuberculosis and the vitamin D receptor polymorphism. A weak association was found between the VDR haplotype and TB susceptibility.
- up-regulation of VDR transcription by Pit-1 is dependent on the presence of VDR protein
- The VDR-FokI T/C polymorphism might be able to be used as a genetic marker to predict the likelihood of Graves Disease development.
- These findings provide evidence for the involvement of the nuclear hormone receptors PPAR gamma and VDR in butyrate-mediated inhibition of inducible NF kappa B activation dependent on the stimulated signalling pathway.
- Overexpression of vitamin D receptor in MG-63 osteosarcoma cells induced the expression of histamine H1 receptor and dermatopontin
- Polymorphisms in the Vitamin D receptor (VDR) gene were postulated to be associated with bone mineral density; VDR gene polymorphism could be influential in the development of rickets in some children as well [review]
- The vitamin D receptor transactivates the human immunodeficiency virus type I long terminal repeat in human HeLa and U937 tumor cells and African green monkey Cos-1 cells in a ligand-dependent manner.
- study found bone strength as indicated by the calcaneal broadband ultrasound attenuation in older Korean women with a low calcium intake was significantly influenced by the VDR genotype but not by the calcium intake, cross-sectionally
- Fewer prostate cancer patients with a bad prognosis had the TT phenotype.
- The distribution of genetic variants of 3 VDR polymorphisms (BsmI, ApaI and FokI) and haplotypes in black and white Brazilians was studied.
- In conclusion, CAR/PXR and VDR bind to and transactivate the same response elements in CYP24 promoter.
- A single nucleotide polymorphism is associated with increased risk of developing Alzheimer disease.
- The AA genotype at the ApaI site of the VDR gene may be a risk of incidence and poor prognosis factor for renal cell carcinoma in the Japanese population
- IGFBP-5 can interact with VDR to prevent RXR:VDR heterodimerization.
- Vitamin D receptor polymorphisms may be associated with abnormal acetabular morphology leading to developmental dysplasia of the hip.
- all of the pathogenic HR mutants bound VDR but exhibited reduced binding to histone deacetylase 1 (HDAC1), suggesting that the impaired corepressor activity is due in part to defective interactions with HDACs
- findings support previous data showing that VDR SNPs modulate the risk for pulmonary tuberculosis in West Africans and suggest that variation within DC-SIGN and PTX3 also affect the disease outcome
- The BsmI B & TaqI t alleles are associated with an increased risk of diffuse large B-cell lymphoma. VDR variants may influence lymphomagenesis.
- Results suggest that the inverse association between UV light and non-Hodgkin lymphoma risk may be mediated by the vitamin D pathway.
- In postmenopausal women with Rheumatoid Arthritis, the bb genotype of the BsmI polymorphism of the Vitamin D Receptor (VDR) gene is associated with less severe disease.
- BAG-1L endogenously regulates gene expression by potentiating nuclear hormone receptor function and a role for BAG-1L in 24-hydroxylase regulation of vitamin D metabolism and the cellular response of oral keratinocytes to 1alpha,25-dihydroxyvitamin D3.
- Associations were observed between the occurrence of fractures and the baT haplotypes of the VDR gene.
- Elevated Pi affects VDR-mediated gene expression in human coronary artery smooth muscle cells(SMCs) and the effect is not limited to VDR in SMCs.
- VDR is regulated by p63 and p73 and the induction of VDR expression upon DNA damage is p73-dependent
- Vitamin D Receptor (VDR) gene Tapolymorphism is associated with familial psoriasis in the Turkish population and VDR gene polymorphisms may play a role in partial resistance to calcipotriol therapy.
- study investigated whether there was any association between VDR gene polymorphisms (BsmI, ApaI, and TaqI) and alopecia areata. The findings suggest that there is no relationship between VDR gene polymorphisms and alopecia areata.
- The VDR haplotype constructed from the ApaI, BsmI, and FokI polymorphisms is related to the risk of severe chronic periodontitis in Japanese men.
- data do not support major role for VDR polymorphism as breast cancer risk factors
- Our findings suggest that vitamin D receptor haplotypes BsmI(G)#TaqI(C) and BsmI(A)#TaqI(T) have a protective effect against colorectal cancer in Caucasians
- Lack of association between vitamin D receptor genotypes and haplotypes with fat-free mass in postmenopausal Brazilian women.
- Allele G of the VDR Bsm I polymorphism was associated with protection against ESRD.
- In the genotype analysis, homozygotes at two VDR loci (rs2107301 and rs2238135) were associated with a 2- to 2.5-fold higher risk of prostate cancer compared with the homozygote common allele.
- Localized breast cancer was not associated with sun exposure or VDR genotype.
- results suggest a lack of association between the Vitamin D receptor gene polymorphisms and susceptibility to thyroid autoimmune diseases in Tunisian population
- it may be worthwhile to focus on subjects with the BB genotype of the vitamin D receptor gene BsmI as having high risk for type 1 diabetes
- Suggest vitamin D receptor has role in mucosal barrier homeostasis by preserving the integrity of junction complexes and the healing capacity of the colonic epithelium.
- findings suggest that FokI polymorphism indicates susceptibility to type 1 diabetes mellitus in the Uruguayan population
- The association of VDR FokI T allele with improved renal allograft survival is a unique observation.
- phosphorylation of RXRalpha at serine 260 impaired the recruitment of DRIP205 and other coactivators to the VDR.RXRalpha complex
- Taq I t allele of the VDR gene may be a risk factor for severe urolithiasis and recurrent stone disease.
- Increased risk for breast cancer in postmenopausal Caucasian women with the BsmI bb genotype and shed light on possible differential effects by menopausal status and race.
- Observations do not support a role for vitamin D receptor polymorphisms in epithelial ovarian cancer in a predominantly Caucasian population.
- polymorphisms in the VDR gene might influence ovarian cancer susceptibility.
- haplotype analysis that encompasses different domains of the VDR gene might further our understanding of associations between the VDR gene and colon and rectal cancer.
- Genetic variation in NR1I1 in Japanese population.
- Family-based study presents some evidence of association of specific VDR gene variants with type 1 diabetes in the population of South Croatia.
- results indicate that bone mass and breast milk calcium are significantly associated with VDR genotypes in lactating Brazilian adolescents
- VDR haplotypes may influence the risk of HIV-1 infection acquisition.
- Three common VDR gene polymorphisms (BsmI, FokI, TaqI) were evaluated among 925 renal cell carcinoma cases and 1192 controls enrolled in a hospital-based case-control study conducted in Central and Eastern Europe.
- Vitamin D receptor polymorphisms are associated with the risk of ALRI (predominantly viral bronchiolitis) in young children
- Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease.
- common haplotypic variants within the VDR gene 3'-region previously linked to VDR mRNA expression and allelic imbalance could be associated with HT in the general population, and thus, may be involved in the pathogenesis of HT.
- Vitamin D receptor activator calcitriol as a negative regulator of the UGT2B15- and UGT2B17-dependent inactivation of androgens in prostate cancer LNCaP cells.
- Observed no evidence of linkage between VDR locus and developmental dysplasia of the hip.
- Human chemokine (C-C motif) receptor 10 (CCR10) promoter is directly activated by Ets-1 and vitamin D receptor in the presence of 1,25-dihydroxyvitamin D3 in terminally differentiating B cells.
- VDR bb genotype of the BsmI gene is associated with a reduced rate of falls compared with the BB genotype, whereas no effect on falls was shown for FokI polymorphism
- study demonstrated the role of VDR gene polymorphism in acute graft-versus-host disease and survival after allogeneic haematopoietic stem cell transplantation
- A correlation was found between vitamin D receptor and calcium-sensing receptor activation therapy and parathyroid hyperplasia.
- association between 4 VDR polymorphisms (ie, those identified by the restriction enzymes BsmI, ApaI, TaqI, and FokI) and iron indices (serum iron, transferrin, transferrin saturation, and ferritin) in 88 hemodialysis patients
- some genetic studies have shown an association between some Vitamin D receptor polymorphisms and calcium kidney stone disease
- the single nucleotide polymorphisms of the VDR gene are unlikely to contribute significantly to type 1 diabetes susceptibility in the Portuguese population
- Vitamin D receptor (VDR) with the retinoid X receptor (RXR) recruits NCoR and SMRT strictly in a VDR agonist-dependent manner.
- Our results indicated that VDR gene polymorphisms might be an important factor for genetic susceptibility to vitamin D deficient rickets in the Turkish population.
- Frequency of the s allele of the CollA1 gene was higher in Russian patients and that of the FokI FF genotype in Tartar patients. The data obtained suggest a possible role of these genes in the pathogenesis of syringomyelia.
- Association with clinical course of the disease (typical form) was obtained for 150V polymorphism of IL4RA gene and for F/f polymorphism of VDR gene (p = 0.001 and p = 0.009, respectively).
- study of polymorphisms in 5'regulatory region of VDR gene in healthy subjects & patients with pulmonary tuberculosis from south India; study suggests Cdx-2 G/G genotype may be associated with protection & A-A haplotype with susceptibility to tuberculosis
- Anti-apoptotic effects of 1 alpha,25(OH)(2)-vitamin D(3) in osteoblasts occur through nongenomic activation of a VDR/PI3K/Akt survival pathway.
- Vitamin D receptor Taq-I TT polymorphism was moderately associated with both the presence and the progression of periodontitis in smokers, while no association was detected in non-smoking individuals.
- Potential effects of VDR polymorphisms on postmenopausal breast cancer risk and possible differential effects of receptor status of the tumour.
- Mutation analysis of the vitamin D receptor gene by direct sequencing analysis of all coding exons showed a homozygous c.122GA(p.Cys41Tyr) variant in exon 2 with several arguments pointing to a pathogenic effect
- VDR polymorphism genotypes and haplotypes did not directly alter recurrence risk, but the reduction in risk associated with high dairy product intake was confined to individuals with ApaI aA/AA genotype
- the SRD5A2 V89L VV genotype interacts with VDR FokI TT/CT genotypes in non-Hispanic White men and VDR CDX2 GG genotypes in Hispanic White men to increase the risk for prostate cancer.
- SLUG binds to the E2-box sequences of the VDR gene promoter and recruits CtBP1 and HDAC1, which results in the inhibition of VDR gene expression by chromatin remodeling.
- These results suggest that the Vitamin D Receptor alleles b, a, T could be considered novel risk factors in the pathogenesis of inflammation-related, atherosclerosis-dependent cardiovascular disease risk in uremic patients.
- TaqI and FokI polymorphisms of the VDR gene do not appear to be responsible for host susceptibility to non-tuberculous mycobacteria lung disease, at least in this Korean population.
- 1alpha,25-Dihydroxyvitamin D(3)-26,23-lactam analogues function as vitamin D receptor antagonists in human and rodent cells.
- strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women
- VDR levels in colorectal neoplasms; possible role of BsmI polymorphism is reported.
- vitamin D receptor induces MDR1 expression in a 1alpha,25-dihydroxyvitamin D(3)-dependent manner
- The BsmI variant of the vitamin D receptor gene was significantly associated with a decreased risk of colorectal cancer in a Chinese population.
- Genetic variation at the VDR locus, in particular Cdx-2 and FokI single-nucleotide polymorphism is associated with colon cancer.
- In a multi-hospital case-control study, multivariate analyses according to genotype find the VDR gene to be one of many independent potent risk factors for ossification of the posterior longitudinal ligament of the spine.
- The trend for homozygote genotypes to increase the odds of SK suggests that intermediate VDR activity is important in protection or that the heterodimer formed by a heterozygous genotype may have an altered binding potential.
- Ultraviolet radiation (UVR) may contribute to multiple sclerosis (MS) outcome by a mechanism involving vitamin D and the vitamin D receptor (VDR)
- Neither the VDR C352T nor the MPO G463A genotype had manifested association with the dysplasia and carcinoma of the disease, whereas the MTHFR 677TT genotype may be a genetic risk factor for esophageal dysplasia and carcinoma
- Vitamin D deficiency in humans is associated with increased prevalence of diseases, as predicted by the VDR null phenotype in mice
- No association between genotypes or alleles of vitamin D receptor TaqI polymorphism and implant loss was found between the groups.
- Modification of the inverse association between dietary vitamin D intake and colorectal cancer risk by a FokI variant supports a chemoprotective action of Vitamin D intake mediated through VDR binding.
- Vitamin D receptor polymorphisms is associated with and breast cancer.
- Oncogenic transformation of mammary epithelial cellS was associated with reduced 1alpha,25(OH)2D3 synthesis, and reduced mRNA and protein levels of VDR and CYP27b1
- No evidence that VDR polymorphisms were associated with mammographic breast density among Caucasian premenopausal women of French descent.
- The BsmI VDR polymorphism in the vitamin d receptor gene seems to influence BMI, while the FokI VDR polymorphism appears to affect insulin sensitivity and serum cHDL level.
- The present work identifies the VDR promoter genotype as a key predictor of growth under treatment with 1alpha-hydroxyvitamin D3 derivatives in patients with hypophosphatemic rickets
- The human VDR is a target of caspase-3 and suggest that activation of caspase-3 may limit VDR activity.
- Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostatic cancer is reported.
- The T allele of the VDR FokI>T polymorphism and the G-T-C (Cdx-2-FokI-BsmI) haplotype may have a role in progression of non-small cell lung carcinoma
- The BsmI polymorphism in the VDR gene does not seem to predispose to obesity and insulin resistance, but the BB genotype is connected with an unfavorable lipid profile.
- The genotype frequencies of VDR were not statistically different between patients with osteoporosis and the control group. Among VDR haplotypes, bbAATT and bbTtAa are more frequent in the osteoporosis group than the control group.
- Data suggest that 1, 25(OH)(2) vitamin D(3) suppresses granzyme A probably by down-regulating Th1 cytokine response, and tah vitamin D receptor gene variants might regulate cytotoxic T-cell response by suppression of granzyme A expression in tuberculosis
- the action of 1,25(OH)(2)D(3) on colon carcinoma cells depends on the dual action of VDR as a transcription factor and a nongenomic activator of RhoA-ROCK and p38MAPK-MSK1.
- 3'VDR allelic variants and duration of biochemical response to the first treatment course are independent predictors of acquired resistance to clodronate treatment in patients with polyostotic Paget's disease of bone
- expression of the human VDR in mouse juxtaglomerular cells reduced renin expression without affecting calcium or parathyroid hormone status
- Certain SNP patterns in VDR and CNTF genes showed better improvement of parameters associated with the effects of low-resistance training using exercise machines as analyzed by comparison between SNP patterns and factor analysis.
- Results indicate that the SMRT corepressor is directly involved in the vitamin D receptor-mediated repression in vivo via an ID1-specific interaction with the VDR.
- associations between SNPs in the VDR gene and Breast Cancer risk, and a comprehensive analysis using clinical and tumour characteristics as outcome variables has revealed potential associations with MM.
- An analysis of 6 prospective studies showed a small, statistically significant increase in breast cancer risk associated with the ff genotype of VDR rs2228570 (FokI) SNP.
- These results suggest an epigenetic repression of VDR gene expression and activity in choriocarcinoma cell lines.
- There is an association between the TT genotype and susceptibility to lepromatous leprosy in this Mexican population.
- an association with the Fok1 VDR polymorphism further support a role of the vitamin D pathway in ovarian carcinogenesis.
