Selected vitamin D metabolic gene variants and risk for Autism Spectrum Disorder in the charge study
Open accessAbstract
Background Vitamin D is essential for proper neurodevelopment and cognitive and behavioral function. We examined associations between autism spectrum disorder (ASD) and common, functional polymorphisms in vitamin D pathways.Methods Children aged 24-60 months enrolled from 2003 to 2009 in the population-based CHARGE case-control study were evaluated clinically and confirmed to have ASD (n=474) or typical development (TD, n=281). Maternal, paternal, and child DNA samples for 384 (81%) families of children with ASD and 234 (83%) families of TD children were genotyped for: TaqI, BsmI, FokI, and Cdx2 in the vitamin D receptor (VDR) gene, and CYP27B1 rs4646536, GC rs4588, and CYP2R1 rs10741657. Case-control logistic regression, family-based log-linear, and hybrid log-linear analyses were conducted to produce risk estimates and 95% confidence intervals (CI) for each allelic variant.Results Paternal VDR TaqI homozygous variant genotype was significantly associated with ASD in case-control analysis (odds ratio [OR] [CI]: 6.3 [1.9-20.7]) and there was a trend towards increased risk associated with VDR BsmI (OR [CI]: 4.7 [1.6-13.4]). Log-linear triad analyses detected parental imprinting, with greater effects of paternally-derived VDR alleles. Child GC AA-genotype/A-allele was associated with ASD in log-linear and ETDT analyses. A significant association between decreased ASD risk and child CYP2R1 AA-genotype was found in hybrid log-linear analysis. There were limitations of low statistical power for less common alleles due to missing paternal genotypes.Conclusions This study provides preliminary evidence that paternal and child vitamin D metabolism could play a role in the etiology of ASD; further research in larger study populations is warranted.
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Schmidt et al. illustrated that risk for ASD was increased in children inheriting the GG genotype of the CYP2R1 gene.
“The authors illustrated that the risk for ASD was increased in children inheriting the AA genotype of the GC gene (D binding protein), the GG genotype of the CYP2R1 gene (a catalyst enzyme involved in the transformation of vitamin D to 25(OH)D), and paternal Taql and Bsml genotypes of the VDR gene, highlighting the possible aetiological role of low vitamin D in ASD.”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [148]
Schmidt et al. illustrated that risk for ASD was increased in children inheriting paternal Taql and Bsml genotypes of the VDR gene.
“The authors illustrated that the risk for ASD was increased in children inheriting the AA genotype of the GC gene (D binding protein), the GG genotype of the CYP2R1 gene (a catalyst enzyme involved in the transformation of vitamin D to 25(OH)D), and paternal Taql and Bsml genotypes of the VDR gene, highlighting the possible aetiological role of low vitamin D in ASD.”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [148]
Schmidt et al. illustrated that risk for ASD was increased in children inheriting the AA genotype of the GC gene.
“The authors illustrated that the risk for ASD was increased in children inheriting the AA genotype of the GC gene (D binding protein), the GG genotype of the CYP2R1 gene (a catalyst enzyme involved in the transformation of vitamin D to 25(OH)D), and paternal Taql and Bsml genotypes of the VDR gene, highlighting the possible aetiological role of low vitamin D in ASD.”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [148]
These results support an association between vitamin D status and ASD.
“All of these results support an association between vitamin D status and ASD.”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [148]
The only study linking vitamin D metabolic gene variants to ASD risk is by Schmidt et al.
“The only study linking vitamin D metabolic gene variants to ASD risk is by Schmidt et al. [148].”
From Vitamin D and Autism Spectrum Disorder: A Literature Review (2016) · cites this paper as [148]
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- Authors
- Schmidt, R. J., Hansen, R. L., Hartiala, J., Allayee, H., Sconberg, J. L., Schmidt, L. C., Volk, H. E., & Tassone, F.
- Affiliations
- University of California Davis Medical Center (US)
- University of Southern California (US)
- University of California, Davis (US)
- Corresponding author
- Schmidt, Rebecca J.
- Venue
- Early Human Development
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 91
- Issue
- 8
- Pages
- 483-489
- ISSN
- 0378-3782 (ISSN-L)
- PMC
- PMC4871694
- OpenAlex
- W1482945184
- Cited by
- 68
- References
- 39
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 7 · 2023: 4 · 2022: 5 · 2021: 6 · 2020: 11 · 2019: 5 · 2018: 7 · 2017: 7 · 2016: 9
- FWCI
- 4.60
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Early Human Development (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Autism Speaks (R01-ES015359)
- University of Washington
- National Institutes of Health
- U.S. Public Health Service (P01-11269)
- National Institute of Mental Health (T32MH073124)
- National Institute of Environmental Health Sciences (R01ES015359, P30ES007048)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD051958)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Vitamin D Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- autism spectrum disorder, vitamin D metabolism, vitamin D receptor gene, VDR BsmI polymorphism, FokI polymorphism, CDX2, CYP27B1, GC gene, CYP2R1, genetic polymorphism, genomic imprinting, paternal genotype, genetic risk, brain development
- MeSH terms
- Autism Spectrum Disorder, Cytochrome P450 Family 2, Adult, Child, Preschool, Fathers, Female, Humans, Male, Vitamin D, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Case-Control Studies, Receptors, Calcitriol, Polymorphism, Single Nucleotide, Cholestanetriol 26-Monooxygenase
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