rs78783628
This variant is located in the VDR gene.
▶Research that mentions this SNP (1)
▶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.
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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