Dec 3, 2017

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

BioRxiv : the Preprint Server for Biology
Varun WarrierSimon Baron-Cohen


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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Mentioned in this Paper

Genome-Wide Association Study
Chromosomes, Human, Pair 14
Autistic Disorder
Chromosomes, Human, Pair 18
Single Nucleotide Polymorphism
Chromosomes, Human, Pair 3
EAF2 gene

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