rs3847987
This is a 3 prime utr variant variant in the VDR gene.
▶ClinVar annotation
Periodontitis; Vitamin D-dependent rickets type II with alopecia (VDDR2A)
View on ClinVar →▶Research that mentions this SNP (3)
▶Association between variants in vitamin D‐binding protein gene and vitamin D deficiency among pregnant women in chinaAssociationN=815Jinju Dong et al.(2020)· Journal of Clinical Laboratory Analysis
This case-control association study of 815 Chinese pregnant women identified five SNPs in the GC (vitamin D-binding protein) gene significantly associated with serum 25-hydroxyvitamin D concentration: rs17467825, rs4588, rs2282679, rs2298850, and rs1155563. Mean 25(OH)D level was 15.67±7.98 ng/mL with 75% prevalence of deficiency. An XGBoost model incorporating these SNPs plus environmental factors achieved AUC 0.828 for predicting 25(OH)D deficiency risk. The study suggests maternal vitamin D deficiency may increase macrosomia risk (12 of 16 macrosomic infants had deficient mothers).
▶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.
▶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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