Social and non-social autism symptoms and trait domains are genetically dissociable
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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, 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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ASD is genetically correlated with empathy (negative correlation) and systemizing (positive correlation).
“A recent observation that ASD is genetically correlated with empathy (negative correlation) and systemizing (positive correlation)”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [59]
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Psychometric analysis of the Empathy Quotient (EQ)
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Self-citationNovel Associations for Hypothyroidism Include Known Autoimmune Risk Loci
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Self-citationEfficient Replication of over 180 Genetic Associations with Self-Reported Medical Data
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Self-citationExploratory and confirmatory factor analysis of the Autism Diagnostic Interview—revised
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Erratum: Meta-analysis of genome-wide association studies of anxiety disorders
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Empathy, systemizing, and autistic traits in anorexia nervosa: A pilot study
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Relationship Between Symptom Domains in Autism Spectrum Disorders: A Population Based Twin Study
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Genetic contributions to self-reported tiredness
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Self-citationGWIS: Genome-Wide Inferred Statistics for Functions of Multiple Phenotypes
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Self-citation
Flagged first, then by citations
Research works printed but not linked: 2
- [48]Cantor RM ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains Mol. Psychiatry 2018 23 993 1000 10.1038/mp.2017.114 28533516 PMC5700871 · DOI
- [52]Asperger, H. in Autism andAspergerSyndrome (ed. Frith, U.) 37–92 (Cambridge University Press, Cambridge, 1944).
Cited by
Sorted by citations
Warrier, V., Greenberg, D. M., Weir, E., Buckingham, C., Smith, P., Lai, M.-C., Allison, C., & Baron-Cohen, S. (2020) · Nature Communications · doi:10.1038/s41467-020-17794-1 · Cited by 595 · see citing works
Self-citationInsufficient Evidence for “Autism-Specific” Genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165 · see citing works
Self-citationGenetic correlates of phenotypic heterogeneity in autism
Warrier, V., Zhang, X., Reed, P., Havdahl, A., Moore, T. M., Cliquet, F., Leblond, C. S., Rolland, T., Rosengren, A., LEAP, E.-A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01072-5 · Cited by 152 · see citing works
Self-citation
- Authors
- Warrier, V., Toro, R., Won, H., Leblond, C. S., Cliquet, F., Delorme, R., De Witte, W., Bralten, J., Chakrabarti, B., Børglum, A. D., Grove, J., Poelmans, G., Hinds, D. A., Bourgeron, T., & Baron-Cohen, S.
- Affiliations
- University of Cambridge (GB)
- Centre National de la Recherche Scientifique (FR)
- University of North Carolina at Chapel Hill (US)
- Radboud University Nijmegen (NL)
- Aarhus University (DK)
- Radboud University Medical Center (NL)
- 23andMe (United States) (US)
- Corresponding author
- Warrier, Varun
- ORCID
- Venue
- Communications Biology
- Published
- 2019-09-03
- Volume
- 2
- Issue
- 1
- Pages
- 328-328
- ISSN
- 2399-3642 (ISSN-L)
- PMC
- PMC6722082
- OpenAlex
- W2971680484
- Cited by
- 94
- References
- 129
- Citations by year
- 2026: 10 · 2025: 9 · 2024: 11 · 2023: 11 · 2022: 17 · 2021: 23 · 2020: 11 · 2019: 1 · 2017: 1
- FWCI
- 7.50
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Communications Biology (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- CentAUR (University of Reading) (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- HAL (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Apollo (cc-by)
- Funders
- Autism Speaks (777394)
- Stanley Medical Research Institute
- Wellcome Trust (102215/2/13/2), 102215, 102215/2/13/, 777394)
- European Federation of Pharmaceutical Industries and Associations (777394)
- Simons Foundation Autism Research Initiative (777394)
- Fondation FondaMental
- National Institute for Health and Care Research
- University of Cambridge
- European Commission (777394)
- University of Bristol (102215/2/13/2)
- Agence Nationale de la Recherche (ANR-11-LABX-0035)
- Institut National de la Santé et de la Recherche Médicale
- Cambridge Commonwealth Trust
- Lundbeckfonden (R155-2014-1724, R102‐A9118, R248‐2017‐2003, R102-A9118 and R155-2014-1724)
- Novo Nordisk
- Centre National de la Recherche Scientifique
- Université Paris Diderot
- Novo Nordisk Fonden
- Assistance publique-Hôpitaux de Paris
- Innovative Medicines Initiative
- Templeton World Charity Foundation
- H. Lundbeck A/S (R102-A9118, R155-2014-1724)
- National Institutes of Health (5r44hg006981-03, 777394, 102215/2/13/2)
- Medical Research Council (102215, ref: 102215/2/13/2, 777394, 102215/2/13/2)
- NIHR Cambridge Biomedical Research Centre
- National Institute of Mental Health (R00MH113823)
- National Human Genome Research Institute (R44-HG006981)
- FP7 Ideas: European Research Council (294838)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, restricted and repetitive behaviors, heritability, genetic correlation, polygenic risk score, genome-wide association study
- MeSH terms
- Autistic Disorder, Female, Humans, Male, Phenotype, Social Behavior, Reproducibility of Results, Cohort Studies, Genetic Predisposition to Disease, Genome-Wide Association Study
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