Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Nat Genet. 2016 May;48(5):552-5. doi: 10.1038/ng.3529. Epub 2016 Mar 21.


Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and population-based resources (total n > 38,000), we find genome-wide genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both LD score correlation and de novo variant analysis, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in diagnosis with an ASD or other neuropsychiatric disorder. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autism Spectrum Disorder / genetics*
  • Child
  • Communication Disorders / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genetics, Population
  • Genome-Wide Association Study
  • Health Status Indicators
  • Humans
  • Male
  • Mental Disorders / genetics*