Autism much more likely if poor Vitamin D Receptor – many studies

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Autism 10X less likely if a good Vitamin D Receptor - Feb 2020

Vitamin D Receptor Polymorphisms Associated With Autism Spectrum Disorder
Autism Res, 2020 Feb 21 DOI: 10.1002/aur.2279
Franca Rosa Guerini 1, Elisabetta Bolognesi 1, Matteo Chiappedi 2, Maria Martina Mensi 2, Oscar Fumagalli 1, Chiara Rogantini 2, Milena Zanzottera 1, Alessandro Ghezzo 3, Michela Zanette 1, Cristina Agliardi 1, Andrea Saul Costa 1, Stefano Sotgiu 4, Alessandra Carta 4 5, Nasser Al Daghri 6, Mario Clerici 1 7

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 (Pc = 0.03 2 df) and to a group of 170 Italian healthy women (HC) (Pc = 0.04 2 df). FokI genotype and allelic distribution skewing were also observed in mothers of ASD children compared to HC (Pc = 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 (Pc = 0.01) and, particularly, with hyperactivity behavior (Pc = 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

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Autism 2X more likely if poor Vitamin D Receptor (yet again) – meta-analysis Jan 2020

Autism 2X more likely if poor Vitamin D Receptor (yet again) – meta-analysis Jan 2020

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Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder - May 2016

Gene, Available online 4 May 2016, doi:10.1016/j.gene.2016.05.004
Salih Coşkun a, , scoskun9 at gmail.com, Şeref Şimşek b, M.Akif Camkurt c, Abdullah Çim a, Sercan Bulut Çelik d
a Dicle University, Medical School, Department of Medical Genetics, Diyarbakır, Turkey
b Dicle University, Medical School, Department of Child Psychiatry, Diyarbakır, Turkey
c Afşin State Hospital, Psychiatry Department, Kahramanmaraş, Turkey
d Family health center, Batman, Turkey
Highlights

• There was significantly association between TaqI, BsmI and FokI polymorphisms and ASD susceptibility.
• The haplotype GTTT was found to confer 2.32-fold risk for ASD compared to controls.
• We found significantly higher serum 25(OH)D levels in ASD patients than controls.
• We showed an association between FokI polymorphism and serum 25(OH)D levels in ASD patients.

Vitamin D is implicated in several aspects of human physiology, and polymorphisms in the vitamin D receptor gene (VDR) are associated with a variety of neuropsychiatric disorders. The aims of this study are to determine whether VDR polymorphisms are associated with autism spectrum disorder (ASD), to examine serum 25-hydroxyvitamin D (25(OH)D) levels in ASD, and to explore whether VDR polymorphisms influence serum 25(OH)D levels. We investigated 480 subjects (237 children with ASD and 243 healthy controls) for the following VDR polymorphisms: TaqI, BsmI, FokI, ApaI, and Cdx2.Within the same samples, 25(OH)D levels were available only for 85 patients and 82 controls. The Cdx-2 variation was shown to deviate from Hardy–Weinberg equilibrium in the controls and was therefore excluded from the study.

We found that the frequency of rare

• FokI TT,
• TaqI CC, and
• BsmI AA genotypes

differed significantly between children with ASD and the controls (p = 0.042, p = 0.016, p = 0.038, respectively).
After correction for multiple testing, only the TaqI CC genotype remained significant. Further analysis using a recessive model showed that rare genotypes of these polymorphisms were significantly higher in patients compared to controls (p = 0.045, p = 0.005 and p = 0.031, respectively). However, no significant association was found between ApaI and ASD.
We found serum 25(OH)D levels to be significantly higher in children with ASD (p < 0.001) and that the FokI polymorphism had an effect on serum 25(OH)D levels in children with ASD (p = 0.041).
Additionally, we found the haplotype GTTT (BsmI/TaqI/FokI/ApaI) conferred an increased risk for developing ASD (p = 0.022; odds ratio [95% confidence interval]=2.322 [1.105–4.879]). This is the first clinical study evaluating the association between serum 25(OH)D levels and VDR polymorphisms in children with ASD. Our results demonstrated a significant association between TaqI, BsmI, and FokI polymorphisms and ASD and showed for the first time that FokI polymorphisms and haplotype GTTT (BsmI/TaqI/FokI/ApaI) are associated with an increased risk of ASD. Our findings support the hypothesis that 25(OH)D is involved in the pathophysiology of autism and that serum 25(OH)D levels may be affected by FokI polymorphisms in children with ASD. Our results should be considered as preliminary and needs confirmation by future studies.

Abbreviations: VDR, Vitamin D receptor gene; ASD, Autism Spectrum Disorder; 25(OH) D, 25-hydroxyvitamin D; HWE, Hardy–Weinberg equilibrium; SNP, Single nucleotide polymorphism; MS, Multiple sclerosis
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Autism risk increased 2 X or 2.6 X with poor Vitamin D receptors – Sept 2017

Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism
Brain Sci. 2017, 7(9), 115; Published: 9 September 2017 doi:10.3390/brainsci7090115 (registering DOI)
Anna Cieślińska 1, Elżbieta Kostyra 1, Barbara Chwała 2, Małgorzata Moszyńska-Dumara 3, Ewa Fiedorowicz 1, Małgorzata Teodorowicz 4 and Huub F.J. Savelkoul 4,* OrcID
1 Faculty of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
2 Regional Children’s Hospital in Olsztyn, 10-719 Olsztyn, Poland
3 Center for Diagnosis, Treatment and Therapy of Autism at the Regional Children’s Hospital in Olsztyn, 10-719 Olsztyn, Poland
4 Cell Biology and Immunology Group, Wageningen University& Research, P.O. Box 338, 6700 AH Wageningen, The Netherlands

Background: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D3 has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene.

Methods: Genetic association of four different VDR polymorphisms (Apa-I, Bsm-I, Taq-I, Fok-I) associated with susceptibility to the development of autism in children was investigated.

Results: We uniquely found an association between the presence of the T allele at position Taq-I and presence of the a allele at position Apa-I of the VDR gene with decreased ASD incidence. There was also an association between female gender and the presence of the T allele. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D3 concentration in serum of ASD children.

Conclusion: Genetic polymorphism in two SNP in VDR may be correlated with development of ASD symptoms by influencing functionality of vitamin D3 metabolism, while vitamin D3 levels were not significantly different between ASD and non-ASD children. View Full-Text

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Autism risk increased 1.95 X if poor VDR - Jan 2018

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VitaminDWiki - Autism 2X to 3X more likely if poor Vitamin D Receptor – June 2020

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