VDR
HGNC:12679 · 71 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “The multilevel meta-analysis showed statistically significant associations for polymorphisms in TAS2R38 rs713598 (OR = 0.26, 95% CI: 0.09-0.73) and VDR Cdx-2 rs11568820 (OR = 0.66, 95% CI: 0.46-0.95), both indicating lower odds of dental caries, while MBL2 rs1800450 was associated with increased odds (OR = 1.48, 95% CI: 1.03-2.14).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “This study explored the structural and functional effects of VDR missense mutations using computational approaches.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “VDR polymorphisms and their influence on oral squamous cell carcinoma susceptibility: a systematic review.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Polymorphisms in the vitamin D receptor (VDR) gene were found to be related to the emergence of tumors in various organs.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “BACKGROUND: Vitamin D receptor (VDR), influenced by gene polymorphisms like FokI, may affect susceptibility to infections, including coronavirus disease 2019 (COVID-19).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “We aimed to explore the impact of different Tru9I variant genotypes on serum vitamin D levels and vitamin D receptor (VDR) gene expression.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Furthermore, SNPs in signaling pathways (VDR, MMP-2, NOTCH) and membrane/RNA-related genes (HER1, HER2, RETN, PRNCR1, HOTAIR) were significantly associated with CRC risk.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “INTRODUCTION: Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Vitamin D-dependent rickets type II (VDDR2) is a rare inherited autosomal recessive disorder wherein the genetic mutation results in a defect in the vitamin D receptor (VDR), thus leading to target resistance to 1.25-dihydroxy vitamin D.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Molecular investigation of vitamin D receptor (VDR) genetic variants and their impact on VDR mRNA and serum vitamin D levels in allergic rhinitis in an Indian population: A case-control study.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Genetic analysis for CDX2 rs11568820 variant detected by PCR (T-ARMS-PCR) method and vitamin D receptor (VDR) gene expression measured by real-time PCR analysis for both patients and healthy subjects.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Vitamin D deficiency and the vitamin D receptor (VDR) gene polymorphism rs2228570 (FokI) are associated with an increased susceptibility to hypertension among the Bangladeshi population.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Frequency of Healthy Control Genotype of VDR Gene Polymorphisms in the Saudi Population of the Ha'il Region: A Comparative Study with Worldwide Population.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The relation with vitamin D deficiency and vitamin D receptor (VDR) gene is well documented in the Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Background: This study explored the association between ApaI-TaqI Single Nucleotide Polymorphisms (SNPs) in a Vitamin D receptor (VDR) and the risk of Gestational Diabetes Mellitus (GDM) in Saudi women, along with the serum levels of vitamin D.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “RESULTS: Several variants in RNPC3, ACAN, GC, VDR and LRP2 were identified in index cases but not in controls.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “PCR was used to genotype all patients' VDR gene polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “It also looks at the incidence of vitamin D receptor (VDR) gene polymorphisms Apa I (rs7975232), Bsm I (rs1544410), Taq I (rs731236), and Fok I (rs2228570) and its association with the development of secondary major acute cardiovascular events (MACE) and heart failure (HF).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The CDX2 G allele and the FoKI F allele of the VDR gene are more prevalent and related to changes in vitamin D levels in patients with psoriasis vulgaris: A pilot study.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “We also investigated whether vitamin D receptor (VDR) FokI polymorphism could be a genetic marker for COVID-19 susceptibility.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Meta-analyses have documented a linkage between vitiligo and the vitamin D receptor (VDR) gene.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Polymorphisms in the vitamin D receptor (VDR) have been linked to coronary artery disease (CAD).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “OBJECTIVE: Appraisement of vitamin D receptor (VDR) polymorphisms is thought to be crucial to detect and make approaches targeting groups at risk for breast cancer (BC).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The link between vitamin D receptor (VDR) gene polymorphisms and maternal MetS has been observed in several ethnic groups, but is yet to be clarified in the Arabian population.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Then, the expression pattern of renal genes and proteins including hepcidin, ferroportin (FPN), megalin, transferrin receptor 1 (TfR1), ferritin heavy and light chains, VD receptor (VDR), VD synthesizing (Cyp27b1) and catabolizing (Cyp24a1) enzymes were measured alongside serum markers of renal function and iron biochemical parameters.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Effect of Vitamin-D-Enriched Edible Mushrooms on Vitamin D Status, Bone Health and Expression of CYP2R1, CYP27B1 and VDR Gene in Wistar Rats.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Several types of vitamin D receptor (VDR) polymorphisms have been investigated as a predisposing factor for psoriasis susceptibility with controversial results.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “TaqI polymorphism T/t genotypes at the vitamin D receptor gene (VDR) are associated with increased serum vitamin D levels in mild and moderate psoriasis vulgaris: A pilot study.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Various vitamin D receptor (VDR) gene variants have been studied and associated with osteoporosis in other populations, but not in a homogenous Arab ethnic group.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The pleiotropic effects of vitamin D are exerted via vitamin D receptor (VDR) and its genetic alterations could influence its functions.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “METHODS: We assessed the associations of previously identified variants in inosine triphosphatase (ITPA), solute carrier 28A2 (SLC28A2) and vitamin D receptor (VDR) genes with ribavirin-induced anemia defined as hemoglobin decline of ≥30 g/L on treatment, followed by a staged discovery (n = 114), replication (n = 74), and combined (n = 188) genome-wide association study to uncover potential new predictive variants.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The vitamin D receptor (VDR) and Cytochrome 24A1 (CYP24A1) genetic variants might affect the drug potency, efficacy and pathway.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Risk factors included age, gender, smoking, multiparity, years since menopause, low BMD, bone markers, high sclerostin, low IgF1, hypovitaminosis D, abdominal aortic calcification score, and VDR polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Vitamin D receptor (VDR) gene polymorphism in Egyptian vitiligo patients.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “We identified CNVs in genes that encode proteins involved in the metabolism of amyloid-β peptide (AGRN, APBA2, CR1, CR2, IGF2R, KIAA0125, MBP, RER1, RTN4R, VDR and WISPI) or Tau proteins (CACNAIC, CELF2, DUSP22, HTRA1 and SLC2A14).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “It has been reported that mutations in the vitamin D receptor (VDR) gene highly affect the metabolism of minerals, which reduces bone density.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Vitamin D binds to the vitamin D Receptor (VDR); the biological activity of the ensuing complex depends on VDR FokI, BsmI, ApaI, and TaqI gene polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Association of VDBP rs4701 Variant, but not VDR/RXR-α Over-Expression with Bone Mineral Density in Pediatric Well-Chelated β-Thalassemia Patients.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Both vitamin D deficiency and single nucleotide polymorphisms (SNPs) in the gene encoding the vitamin D receptor (VDR) have been widely reported to associate with susceptibility to polycystic ovarian syndrome (PCOS).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “BACKGROUND: Polymorphisms in the gene encoding the vitamin D receptor (VDR) affect the protective role of vitamin D against many types of cancers, including colorectal cancer (CRC).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Vitamin D can impact the function of virtually every cell in the gut by binding to its intracellular receptor (VDR) and subsequently transcribing relevant genes.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Background Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The exact association between Vitamin D deficiency and chronic disease conditions remains unclear; however, studies have focused on the mechanism of Vitamin D regulation by assessing the role of the Vitamin D associated genes/proteins such as VDR (Vitamin D receptor), VDBP (Vitamin D Binding protein), CYP27B1 as these are integral parts of the Vitamin D signaling pathway.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “BACKGROUND: The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Studies from Egypt, Iraq, Jordan, Oman, Qatar, Saudi Arabia, Tunisia, and United Arab Emirates had been explored studying the associations of GIPR, ADIPOQ, FTO, (GRCh38.p12), MLXIP, AKNAD1, KCNJ11 CDKAL1, CDKN2A/2B, TCF7L2, ACE, SNAP25, ELMO1, VDR, KCTD8, GABRA4 and PRKD1 genes with T2D development.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “After receiving informed consent, blood samples from 300 subjects were collected to measure calcium, phosphorus, alkaline phosphatase, parathyroid hormone osteocalcin, and 1,25-OHD and perform genetic analysis of SNPs in vitamin D receptors (VDR) rs2228570, rs731236, and rs11568820.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case-control analysis.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “We aimed to analyze the circulating levels of total 25-hydroxy vitamin D (25-OHD), vitamin D receptor (VDR) transcript and VD-binding protein (VDBP) in a sample of Saudi T2DM and to correlate these profiles with diabetic nephropathy and insulin resistance.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Altered gene expression and function have strong effect on VDR gene polymorphism.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Associations of 3 SNPs with serum 25OHD concentration were dependent on age with greater effects on younger (≤60 y) than older (>60 y) adults (rs10783219 in VDR, rs12512631 in GC and rs3794060 in NADSYN1/DHCR7; pinteraction = 0.03, 0.02 and 0.01, respectively).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “RESULTS: The top 370 probe sets that were differentially expressed between BCBM and both BC and prBT were in the majority comparably overexpressed in BCBM and included, e.g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “RESULTS: Associations between serum 25OHD concentration and 2 SNPs, one in the vitamin D receptor (VDR) gene (rs4516035) and one in the group-specific component (GC) gene (rs12512631), were stronger during pregnancy in mothers whose children later developed type 1 diabetes than in mothers whose children did not (pinteraction = 0.03, 0.02, respectively).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “CONCLUSION: Low vitamin D level and VDR BsmI and Taq1 genotypes may be a risk factor of obesity.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Thus, we studied the metabolic effects of a 12-month vitamin D supplementation in T2DM patients according to VDR polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The biological actions of vitamin D are largely mediated through binding to the vitamin D receptor (VDR), a member of the nuclear hormone receptor family, which regulates gene expression in a wide variety of tissues and cells.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “OBJECTIVE: Vitamin D receptor (VDR) gene polymorphism have a role in diabetes mellitus pathogenesis.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “CONTEXT: Hereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “To explore the mechanisms underlying the suggested role of the vitamin D/vitamin D receptor (VDR) complex in the pathogenesis of obesity we performed genetic and immunologic analyses in obese and non-obese Saudi individuals without other concomitant chronic diseases.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “This study was conducted to assess the association between vitamin D receptor (VDR) polymorphisms and genetic susceptibility to components of the metabolic syndrome, type 2 diabetes mellitus (T2DM), and vitamin D deficiency in the Saudi Arabian population.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The active form, 1alpha,25-(OH)2D, binds to the vitamin D receptor (VDR) to modulate gene transcription and regulate mineral ion homeostasis.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The vitamin D receptor (VDR) gene has been involved in the modulation of susceptibility to inflammatory and autoimmune conditions, and could play a role in the pathogenesis of type 2 diabetes mellitus (T2DM).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “The main objectives of the present study were to determine the factors influencing vitamin D status in relation to serum 25-hydroxyvitamin D (25(OH)D), intact parathyroid hormone (PTH), bone turnover markers (BTMs), bone mineral density (BMD), and vitamin D receptor genotype (VDR) in healthy Saudi pre- and postmenopausal women.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR).” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “Mutations in the vitamin D receptor (VDR) result in hereditary 1,25-dihydroxyvitamin D3-resistant rickets (HVDRR), an autosomal recessive disease caused by target organ resistance to the action of 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3].” | 0.98 | hgnc_dict_v1 |