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

By Varun Warrier, Roberto Toro, Hyejung Won, Claire S Leblond, Freddy Cliquet, Richard Delorme, Ward De Witte, Janita Bralten, Bhismadev Chakrabarti, Anders Børglum, Jakob Grove, Geert Poelmans, the 23andMe Research Team, David A. Hinds, Thomas Bourgeron, Simon Baron-Cohen

Posted 03 Dec 2017
bioRxiv DOI: 10.1101/228254 (published DOI: 10.1038/s42003-019-0558-4)

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, yet, this hypothesis has not been tested using molecular genetics. We test this using a GWAS of a non-social autistic trait, systemizing (N = 51,564), defined as the drive to analyse and build systems. We demonstrate that systemizing is heritable and genetically correlated with autism. In contrast, we do not identify significant genetic correlations between social autistic traits and systemizing. Supporting this, polygenic scores for systemizing are significantly 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.

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