rs11574139
This variant is located in the VDR gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶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.
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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