Autism spectrum disorders and autistic traits share genetics and biology

Mol Psychiatry. 2018 May;23(5):1205-1212. doi: 10.1038/mp.2017.98. Epub 2017 May 16.


Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants. We developed and validated a self-report questionnaire of autistic traits in adults. We then conducted genome-wide association studies (GWASs) of six trait scores derived from the questionnaire through exploratory factor analysis in 1981 adults from the general population. Using the results from the Psychiatric Genomics Consortium GWAS of ASDs, we observed genetic sharing between ASDs and the autistic traits 'childhood behavior', 'rigidity' and 'attention to detail'. Gene-set analysis subsequently identified 'rigidity' to be significantly associated with a network of ASD gene-encoded proteins that regulates neurite outgrowth. Gene-wide association with the well-established ASD gene MET reached significance. Taken together, our findings provide evidence for an overlapping genetic and biological etiology underlying ASDs and autistic population traits, which suggests that genetic studies in the general population may yield novel ASD genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autism Spectrum Disorder / etiology
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / physiopathology
  • Autistic Disorder / etiology
  • Autistic Disorder / genetics*
  • Autistic Disorder / physiopathology
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Variation / genetics
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Proto-Oncogene Proteins c-met / genetics
  • Self Report
  • Surveys and Questionnaires


  • MET protein, human
  • Proto-Oncogene Proteins c-met