Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder
Autism Res 2020, 13: 680–690 https://doi.org/10.1002/aur.2279
Franca Rosa Guerini Elisabetta Bolognesi Matteo Chiappedi Maria Martina Mensi Oscar Fumagalli Chiara Rogantini Milena Zanzottera … See all authors
A poor Vitamin D Receptor limits how much Vitamin D in the blood gets to the cell
A sibling with a poor Vitamin D Receptor was 2X to 3X more ikely to have Autism.
Items in both categories Autism and VDR are listed here:
- More than 30% of Autistics also have ADHD - Nov 2024
- Autism treated by an activator of the Vitamin D Receptor: supforaphane - March 2024
- Autism may be synergistically treated by Vitamin D and probiotics – July 2022
- Autism 2X to 3X more likely if poor Vitamin D Receptor – June 2020
- A good Vitamin D Receptor (or perhaps more vitamin D) protects against lead during pregnancy
- Autism much more likely if poor Vitamin D Receptor – many studies
Vitamin D Receptor is associated in over 40 autoimmune studies
The risk of 44 diseases at least double with poor Vitamin D Receptor as of Oct 2019
Vitamin D Receptor activation can be increased by any of: Resveratrol, Omega-3, Magnesium, Zinc, Quercetin, non-daily Vit D, Curcumin, intense exercise, Ginger, Essential oils, etc Note: The founder of VitaminDWiki uses 10 of the 13 known VDR activators
Download the PDF from Sci-Hub via VitaminDWiki
Vitamin D is endowed with a number of biological properties, including down‐regulation of inflammation, and might contribute to the pathogenesis of autism spectrum disorders (ASD). Vitamin D binds to the vitamin D Receptor (VDR); the biological activity of the ensuing complex depends on VDR FokI , BsmI , ApaI , and TaqI gene polymorphisms. We evaluated such Single Nucletoide Polymorphismsm (SNPs) in a cohort of 100 Italian families with ASD children. FokI genotype distribution was skewed in ASD children compared with their healthy sibs (P c = 0.03 2 df ) and to a group of 170 Italian healthy women (HC) (P c = 0.04 2 df ). FokI genotype and allelic distribution skewing were also observed in mothers of ASD children compared to HC (P c = 0.04 2 df ). Both Transmission Disequilibrium Test for single loci and haplotype analysis distribution revealed a major FokI (C) allele‐mediated protective effect, which was more frequently transmitted (73%) than not transmitted to healthy sibs (P = 0.02). A protective FokI‐ , BsmI‐ , ApaI‐ , and TaqI (CCAG ) haplotype was more frequently carried by healthy sibs than by ASD children (P = 1 × 10−4; OR: 0.1, 95% CI: 0.03–0.4) too. Finally, a strong gene‐dose association of FokI (T) allele with both higher Childhood Autism Rating Scale score (P c = 0.01) and, particularly, with hyperactivity behavior (P c = 0.006) emerged in ASD children. Because the protein produced by the FokI (T) allele is transcriptionally less active than that produced by the FokI (C) allele, the reduced biological activity of the vitamin D/VDR complex prevalent in ASD could favor ASD‐ and maternal immune activation‐ associated inflammation. Vitamin D supplementation might be useful in preventative and rehabilitation protocols for ASD.
Lay Summary
Vitamin D deficiency and Vitamin D receptor (VDR) polymorphisms are associated with structural and functional brain abnormalities and behavioral disorders. We analyzed the association of VDR gene polymorphisms in a cohort of 100 Italian families with ASD children. A strong correlation between one of the VDR polymorphisms and hyperactivity behavior was evidenced in ASD children. In healthy mothers, the same VDR polymorphism was also correlated with an increased risk of giving birth to children with ASD.