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Examining Sex Differences in Autism Heritability.

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Epidemiology

Background:

  • Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a higher prevalence in males.
  • The genetic underpinnings of ASD and its skewed sex ratio remain incompletely understood.
  • Large-scale population-based studies estimating sex-specific heritability of ASD are lacking.

Purpose of the Study:

  • To estimate the sex-specific heritability of autism spectrum disorder (ASD).

Main Methods:

  • A population-based, retrospective analysis of national health registers in Sweden.
  • Included nontwin siblings and cousins born between 1985 and 1998, followed up to 19 years of age.
  • Models estimated variance in ASD risk due to sex-specific additive genetics and environmental factors.

Main Results:

  • The study analyzed 1,047,649 individuals across 456,832 families.
  • ASD heritability was estimated at 87.0% for males and 75.7% for females, a significant difference of 11.3%.
  • No evidence supported shared environmental contributions to ASD risk.

Conclusions:

  • The heritability of phenotypic variation in ASD differs significantly between males and females.
  • Underlying causes of ASD may differ between sexes, potentially explaining the skewed sex ratio.
  • Differences in genetic variance between sexes may partly account for the observed sex ratio in ASD.