Aliases: NR1I1, PPP1R163
Chromosome No: 12
Chromosome Band: 12q13.11
Genetic Category: Genetic association-Functional
ASD Reports: 10
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 2
Evidence score: null
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Relevance to Autism
Polymorphisms in the VDR gene have been shown to nominally associate with ASD in multiple populations (Schmidt et al., 2015; Coskun et al., 2016; Bojovic et al., 2017; Cieslinska et al., 2017; Zhang et al., 2018). Serum levels of 25-hydroxyvitamin D were found to be significantly higher in ASD cases, and the FokI polymorphism was observed to have a significant effect on serum 25-hydroxyvitamin D levels in children with ASD, in Coskun et al., 2016. Whole blood VDR gene expression was found to be significantly higher in a cohort of 30 age and gender matched patients diagnosed with ASD compared to a cohort of 30 healthy controls (p < 0.0001) (Balta et al., 2018).
Molecular Function
Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis.
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