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Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study

Rebecca J Schmidt1, Robin L Hansen2, Jaana Hartiala3

  • 1Department of Public Health Sciences, University of California Davis School of Medicine, Davis, CA, USA; Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis, Sacramento, CA, USA.

Early Human Development
|June 16, 2015
PubMed

Insights

Paternal and child vitamin D metabolism may influence autism spectrum disorder (ASD) risk. Genetic variations in vitamin D pathways, particularly in fathers, show associations with ASD development.

Area of Science:

  • Genetics
  • Neuroscience
  • Endocrinology

Background:

  • Vitamin D is crucial for neurodevelopment, cognitive, and behavioral functions.
  • Autism spectrum disorder (ASD) is a neurodevelopmental condition with complex etiology.
  • Functional polymorphisms in vitamin D pathways are investigated for their potential role in ASD.

Purpose of the Study:

  • To examine the association between autism spectrum disorder (ASD) and common, functional polymorphisms in vitamin D pathways.
  • To investigate the role of genetic variations in vitamin D metabolism in the etiology of ASD.
  • To analyze the influence of paternal and child vitamin D-related genotypes on ASD risk.

Main Methods:

  • Case-control study (CHARGE) involving children aged 24-60 months with ASD (n=474) and typical development (TD, n=281).
  • Genotyping of vitamin D receptor (VDR) gene polymorphisms (TaqI, BsmI, FokI, Cdx2) and other vitamin D pathway genes (CYP27B1, GC, CYP2R1) in maternal, paternal, and child DNA.
  • Application of case-control logistic regression, family-based log-linear, and hybrid log-linear analyses to assess genetic associations and risk estimates.

Main Results:

  • Paternal VDR TaqI homozygous variant genotype significantly associated with increased ASD risk (OR [CI]: 6.3 [1.9-20.7]).
  • A trend towards increased ASD risk was observed with paternal VDR BsmI genotype (OR [CI]: 4.7 [1.6-13.4]).
  • Child GC AA-genotype/A-allele associated with ASD; child CYP2R1 AA-genotype associated with decreased ASD risk. Parental imprinting effects noted for VDR alleles.

Conclusions:

  • Preliminary evidence suggests paternal and child vitamin D metabolism may contribute to the etiology of ASD.
  • Genetic variations in vitamin D pathways, particularly those inherited paternally, warrant further investigation in ASD.
  • Larger study populations are needed to confirm these findings and explore the role of vitamin D in ASD development.
Abstract

Keywords:
Autistic disorderGenesInteractionPreventionTriosVitamin D

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