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

Published version
Peer-reviewed

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Authors

Warrier, Varun 
Toro, Roberto 
Won, Hyejung 
Leblond, Claire 
Cliquet, Freddy 

Abstract

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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Keywords

Autism spectrum disorders, Genetic predisposition to disease, Genome-wide association studies, Autistic Disorder, Cohort Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Phenotype, Reproducibility of Results, Social Behavior

Journal Title

Communications Biology

Conference Name

Journal ISSN

2399-3642
2399-3642

Volume Title

Publisher

Springer Science and Business Media LLC