Cited by 262Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersSchizophrenia research and treatment

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Comparative genomics of autism and schizophrenia

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Crespi, Bernard, Stead, Philip, Elliot, Michael·2010·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0906080106PMC PMC2868282

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Abstract

We used data from studies of copy-number variants (CNVs), single-gene associations, growth-signaling pathways, and intermediate phenotypes associated with brain growth to evaluate four alternative hypotheses for the genomic and developmental relationships between autism and schizophrenia: ( i ) autism subsumed in schizophrenia, ( ii ) independence, ( iii ) diametric, and ( iv ) partial overlap. Data from CNVs provides statistical support for the hypothesis that autism and schizophrenia are associated with reciprocal variants, such that at four loci, deletions predispose to one disorder, whereas duplications predispose to the other. Data from single-gene studies are inconsistent with a hypothesis based on independence, in that autism and schizophrenia share associated genes more often than expected by chance. However, differentiation between the partial overlap and diametric hypotheses using these data is precluded by limited overlap in the specific genetic markers analyzed in both autism and schizophrenia. Evidence from the effects of risk variants on growth-signaling pathways shows that autism-spectrum conditions tend to be associated with up-regulation of pathways due to loss of function mutations in negative regulators, whereas schizophrenia is associated with reduced pathway activation. Finally, data from studies of head and brain size phenotypes indicate that autism is commonly associated with developmentally-enhanced brain growth, whereas schizophrenia is characterized, on average, by reduced brain growth. These convergent lines of evidence appear most compatible with the hypothesis that autism and schizophrenia represent diametric conditions with regard to their genomic underpinnings, neurodevelopmental bases, and phenotypic manifestations as reflecting under-development versus dysregulated over-development of the human social brain.

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Authors: Crespi, B., Stead, P., & Elliot, M.
Affiliations: Simon Fraser University (CA)
ORCID: Crespi, Bernard
Elliot, Michael
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2010-01-26
Volume: 107
Issue: suppl_1
Pages: 1736-1741
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.0906080106
PMC: PMC2868282
OpenAlex: W2021377987
Cited by: 262
References: 106
Citations by year: 2026: 2 · 2025: 10 · 2024: 8 · 2023: 5 · 2022: 11 · 2021: 14 · 2020: 8 · 2019: 18 · 2018: 18 · 2017: 16 · 2016: 23 · 2015: 19 · 2014: 18 · 2013: 24 · 2012: 26
FWCI: 11.01
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
Keywords: autism spectrum disorder, schizophrenia, copy number variation, brain growth, head size, brain size, shared genetic risk loci, brain development, social brain
MeSH terms: Autistic Disorder, Humans, Schizophrenia, Gene Dosage, Genomics

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