VDR
LOCUS ID7421
GENE_SYMBOLVDR
GENE NAMEvitamin D (1,25- dih
SYNONYMNSNR1I1, PPP1R163
CHROMOSOME12
HOMOLOGENE ID37297
microRNAsNANA
GENE SUMMARY
This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those invo

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Comparison of DN group and healthy subjects identified statistically significant difference for the FokI polymorphism in VDR gene (P<10-4) and also for the BstBI polymorphism in PTH gene (P=0,023).22777106
Cardiovascular1. An association between the vitamin D receptor (VDR) GAT haplotype and coronary artery disease (CAD) in type-2 diabetes has recently been described26724524
Retinopathy1. VDR rs2228570 might be good candidate biomarker of DR in Han Chinese T2DM patients.25899017
Tuberculosis1. Results showed that DM2 group has lower VDR and AMPs expression levels. When Monocytes Derived Macrophages (MDM) from DM2 patients with low VDR expression were supplemented with vitamin D, MDMs eliminate efficiently M. tuberculosis. This preliminary study suggests the use of vitamin D as prophylaxis for tuberculosis in high DM2 endemic countries25016144
Atherosclerosis1. The 'G' allele of the VDR gene SNP is associated with a significant risk for T2DM, Diabetic Neuropathy (DN) and Coronary Artery Disease (CAD). In addition, subjects with mutant GG genotype had lower levels of (25[OH]D) in both T2DM and micro-macrovascular complications than AA genotype. Thus, VDR (rs1544410) SNP was found to be associated with decreased serum (25[OH]D) levels in both micro-macrovascular complications of T2DM among South Indian Population.25016144
Insulin resistance and inflammation1.Importantly, pharmacological inhibition of BRD9 promotes PBAF-VDR association to restore ? cell function and ameliorate hyperglycemia in murine T2D models. 29738868