Social and non-social autism symptoms and trait domains are genetically dissociable

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  • Varun Warrier, University of Cambridge
  • ,
  • Roberto Toro, Université de Paris
  • ,
  • Hyejung Won, The University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, United States
  • ,
  • Claire S. Leblond, Université de Paris
  • ,
  • Freddy Cliquet, Université de Paris
  • ,
  • Richard Delorme, Hopital Robert-Debre AP-HP, Université de Paris
  • ,
  • Ward De Witte, Radboud University Nijmegen Medical Centre
  • ,
  • Janita Bralten, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen
  • ,
  • Bhismadev Chakrabarti, University of Cambridge, University of Reading
  • ,
  • Anders D. Børglum
  • Jakob Grove
  • Geert Poelmans, Radboud University Nijmegen Medical Centre
  • ,
  • David A. Hinds, 23andMe Inc.
  • ,
  • Thomas Bourgeron, Université de Paris
  • ,
  • Simon Baron-Cohen, University of Cambridge

The core diagnostic criteria for autism comprise two symptom domains – social and communication difficulties, and unusually repetitive and restricted behaviour, interests and activities. There is some evidence to suggest that these two domains are dissociable, though this hypothesis has not yet been tested using molecular genetics. We test this using a genome-wide association study (N = 51,564) of a non-social trait related to autism, systemising, defined as the drive to analyse and build systems. We demonstrate that systemising is heritable and genetically correlated with autism. In contrast, we do not identify significant genetic correlations between social autistic traits and systemising. Supporting this, polygenic scores for systemising are significantly and positively associated with restricted and repetitive behaviour but not with social difficulties in autistic individuals. These findings strongly suggest that the two core domains of autism are genetically dissociable, and point at how to fractionate the genetics of autism.

Original languageEnglish
Article number328
JournalCommunications Biology
Volume2
Issue1
Number of pages13
DOIs
Publication statusPublished - 2019

    Research areas

  • DIAGNOSTIC OBSERVATION SCHEDULE, EMPATHY QUOTIENT, FUNCTIONING AUTISM, GENERAL-POPULATION, GENOME-WIDE ASSOCIATION, LD SCORE REGRESSION, PSYCHOMETRIC ANALYSIS, REPETITIVE BEHAVIOR, SPECTRUM QUOTIENT AQ, SYSTEMATIZING QUOTIENT

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