rs2853563
This variant is located in the VDR gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothersAssociationN=615Geeta K. Swamy et al.(2011)· American Journal of Medical Genetics Part A
A prospective cohort study of 615 pregnant women (477 non-Hispanic Black, 138 non-Hispanic White) examining maternal VDR genetic variation and infant birthweight. Among non-Hispanic Black women, 8 of 38 VDR SNPs showed nominal significance with birthweight, with rs7975232 surpassing multiple testing correction threshold (p=0.0009). No VDR SNPs were associated with birthweight in non-Hispanic White women. rs7975232 is part of a VDR haplotype associated with mRNA stability and variation in vitamin D levels.
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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