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

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作者
Varun Warrier
Roberto Toro
Hyejung Won
Claire S. Leblond
Freddy Cliquet
Richard Delorme
Ward De Witte
Janita Bralten
Bhismadev Chakrabarti
Anders D. Børglum
Jakob Grove
Geert Poelmans
David A. Hinds
Thomas Bourgeron
Simon Baron-Cohen
机构
[1] University of Cambridge,Autism Research Centre, Department of Psychiatry
[2] Institut Pasteur,Human Genetics and Cognitive Functions
[3] UMR3571 CNRS,Department of Genetics and Neuroscience Center
[4] Université de Paris,Child and Adolescent Psychiatry Department
[5] University of North Carolina,Department of Human Genetics
[6] Robert Debré Hospital,Donders Institute for Brain, Cognition and Behaviour
[7] Radboud University Medical Center,Centre for Autism, School of Psychology and Clinical Language Sciences
[8] Radboud University,The Lundbeck Foundation Initiative for Integrative Psychiatric Research
[9] University of Reading,Centre for Integrative Sequencing, iSEQ
[10] iPSYCH,Department of Biomedicine
[11] Aarhus University, Human Genetics
[12] Aarhus University,Bioinformatics Research Centre
[13] Aarhus University,undefined
[14] 23andMe Inc.,undefined
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摘要
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.
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