Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
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Abstract
Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and population-based resources (total n > 38,000), we find genome-wide genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both LD score correlation and de novo variant analysis, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in diagnosis with an ASD or other neuropsychiatric disorder. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.
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The enrichment in ID/DD genes is compatible with observations of the role of intellectual disability genes in some cases of autism and schizophrenia, though penetrance for schizophrenia may be much less than for intellectual disability and may reside primarily in syndromic cases.
“This enrichment is compatible with observations of the role of intellectual disability genes in some cases of autism38–40 and schizophrenia17, though the penetrance of such mutations for schizophrenia may be much less than their penetrance for intellectual disability, and they may reside primarily in syndromic cases in which schizophrenia is preceded by other developmental disorders17.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [40]
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- Authors
- iPSYCH-SSI-Broad Autism Group, Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K. E., Sanders, S. J., Ripke, S., Martin, J., Hollegaard, M. V., Werge, T., Hougaard, D. M., Neale, B. M., Evans, D. M., Skuse, D., Mortensen, P. B., Børglum, A. D., Ronald, A., Smith, G. D., & Daly, M. J.
- Affiliations
- Broad Institute (US)
- Statens Serum Institut (DK)
- Translational Research Institute (AU)
- Aarhus University (DK)
- University of Bristol (GB)
- Corresponding author
- Robinson, Elise B
- Daly, Mark J
- ORCID
- Robinson, Elise B
- Anttila, Verneri
- Kosmicki, Jack A
- Bulik-Sullivan, Brendan
- Grove, Jakob
- Maller, Julian
- Samocha, Kaitlin E
- Sanders, Stephan J
- Ripke, Stephan
- Martin, Joanna
- Hollegaard, Mads V
- Werge, Thomas
- Hougaard, David M
- Neale, Benjamin M
- Evans, David M
- Skuse, David
- Mortensen, Preben Bo
- Børglum, Anders D
- Ronald, Angelica
- Smith, George Davey
- Daly, Mark J
- Venue
- Nature Genetics
- Published
- 2016-03-21
- Volume
- 48
- Issue
- 5
- Pages
- 552-555
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2303475965
- Cited by
- 367
- References
- 36
- Citations by year
- 2026: 19 · 2025: 15 · 2024: 16 · 2023: 21 · 2022: 32 · 2021: 49 · 2020: 37 · 2019: 38 · 2018: 48 · 2017: 60 · 2016: 32
- FWCI
- 37.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Autism Speaks
- Simons Foundation (311789, 307705, SFARI 311789)
- National Alliance for Research on Schizophrenia and Depression
- Wellcome Trust (102215/2/13/2), 102215, 106047/Z/14/Z)
- Simons Foundation Autism Research Initiative
- University of Bristol (MC_UU_12013/1, MC_UU_12013/1,9, 102215/2/13/2)
- Lundbeckfonden
- H. Lundbeck A/S
- Medical Research Council (102215, MC_UU_12013, MC_UU_12013/1‐9, MCUU12013/1, 102215/2/13/2, MC_PC_15018)
- National Institute of Mental Health (U01 MH094432, 102215/2/13/2, K01 MH099286, 1K01MH099286-01A1, 5U01MH094432‐02)
- 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, genetic risk, neuropsychiatric disorders, social behavior, adaptive behavior, genetic correlation, de novo mutations, continuum model, general population
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