rs739837
This is a regulatory region variant variant in the VDR gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
Periodontitis; Vitamin D-dependent rickets type II with alopecia (VDDR2A)
View on ClinVar →▶Research that mentions this SNP (3)
▶Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndromeAssociationN=288Félix Javier Jiménez-Jiménez et al.(2021)· Journal of Neurology
This case-control study of 288 Spanish RLS patients and 325 controls examined vitamin D metabolism genes and serum vitamin D levels. Serum 25-hydroxyvitamin D levels were significantly higher in RLS patients (21.94 ng/mL vs 18.63 ng/mL, p=0.0002), but seven SNPs in VDR and GC genes showed no association with RLS risk. However, RLS patients carrying the rs7975232CC genotype had higher frequency of response to GABAergic drugs.
▶Vitamin D receptor polymorphisms in patients with cutaneous melanomaAssociationN=3,676Irene Orlow et al.(2012)· International Journal of Cancer
A population-based case-control study of 3,676 individuals from the Genes, Environment and Melanoma (GEM) Study examined 38 vitamin D receptor (VDR) gene polymorphisms in relation to cutaneous melanoma risk. The study found 8 SNPs with statistically significant associations with melanoma, including 6 SNPs investigated for the first time in relation to melanoma (OR range approximately 0.87-1.19), supporting the role of the vitamin D pathway in melanoma genesis.
▶Vitamin D pathway gene variants and prostate cancer prognosisAssociationN=1,294Sarah K. Holt et al.(2010)· The Prostate
This prospective cohort study of 1,294 Caucasian prostate cancer cases with 8-year follow-up examined vitamin D pathway gene variants (VDR, CYP27B1, CYP24A1) using 48 tagging SNPs. Variants in VDR (rs6823, rs2071358, rs3782905, rs7299460, rs11168314) and CYP24A1 (rs927650, rs2762939, rs3787557, rs4809960, rs2296241, rs2585428, rs6022999) were associated with altered risks of prostate cancer recurrence/progression and/or prostate cancer-specific mortality. A panel of VDR and CYP24A1 SNPs improved prediction of 5-year recurrence/progression (sensitivity increased from 53.7% to 75.6% at 80% specificity) beyond clinical parameters alone.
About VDR
This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
View all VDR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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