The DOI matches its Crossref record; 106 of the 106 references it cites were found in a registry or an index.
Comparative genomics of autism and schizophrenia
Open accessAbstract
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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“would appear to be distributed in human populations in a spectrum ranging from autism (deficient ToM) to schizophrenia (excessive ToM) with a clear genetic basis (Crespi and Badcock 2008; Crespi et al. 2009)”
From Body and Mind in Early China: An Integrated Humanities–Science Approach (2013) · cites this paper as Crespi et al. 2009
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“2 to 15q13 (and sometimes including these four genes) are awell-documented risk factor for autism, with seven such duplications reported in the autism studies considered here (16, 25, 26, 28).”
BackgroundRare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
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Mirror neurons: from origin to function
Cook, R., Bird, G., Catmur, C., Press, C., & Heyes, C. (2014) · Behavioral and Brain Sciences · doi:10.1017/s0140525x13000903 · Cited by 647
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580
Metadata
- Authors
- Crespi, B., Stead, P., & Elliot, M.
- Affiliations
- Simon Fraser University (CA)
- 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
- 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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