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Commun Biol. 2019 Sep 3;2:328. doi: 10.1038/s42003-019-0558-4. eCollection 2019.

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

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1Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridgeshire, UK.
Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.
3Department of Genetics and Neuroscience Center, University of North Carolina, Chapel Hill, NC 27599 USA.
4Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, France.
5Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
6Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
7Centre for Autism, School of Psychology and Clinical Language Sciences, University of Reading, Reading, UK.
The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
9Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.
10Department of Biomedicine - Human Genetics, Aarhus University, Aarhus, Denmark.
11Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
1223andMe Inc., Mountain View, CA 94043 USA.
Contributed equally


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.


Autism spectrum disorders; Genetic predisposition to disease; Genome-wide association studies

Conflict of interest statement

Competing interestsD.A.H. and the 23andMe Research Team are employees of 23andMe, Inc. The remaining authors declare no competing interests.

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