Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Elise B Robinson; Beate St Pourcain; Verneri Anttila; Jack A Kosmicki; Brendan Bulik-Sullivan; Jakob Grove; Julian Maller; Kaitlin E Samocha; Jan-Stephan F Sanders; Stephan Ripke; Joanna Martin; Mads V Hollegaard; Thomas Werge; David M. Hougaard; Benjamin M Neale; David M Evans; David Skuse; Preben Bo Mortensen; Anders D Børglum; Angelica Ronald; George Davey Smith; Mark J Daly; iPSYCH-SSI-Broad Autism Group

doi:10.1038/ng.3529

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Elise B Robinson, Beate St Pourcain, Verneri Anttila, Jack A Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E Samocha, Jan-Stephan F Sanders, Stephan Ripke, Joanna Martin, Mads V Hollegaard, Thomas Werge, David M. Hougaard, Benjamin M Neale, David M Evans, David Skuse, Preben Bo Mortensen, Anders D Børglum, Angelica RonaldGeorge Davey Smith, Mark J Daly, iPSYCH-SSI-Broad Autism Group

Institut for Klinisk Medicin

195 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Nature Genetics
Vol/bind	48
Udgave nummer	5
Sider (fra-til)	552-5
Antal sider	4
ISSN	1061-4036
DOI	https://doi.org/10.1038/ng.3529
Status	Udgivet - 1 maj 2016

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10.1038/ng.3529

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Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K. E., Sanders, J-S. F., 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., ... iPSYCH-SSI-Broad Autism Group (2016). Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nature Genetics, 48(5), 552-5. https://doi.org/10.1038/ng.3529

Robinson, EB, St Pourcain, B, Anttila, V, Kosmicki, JA, Bulik-Sullivan, B, Grove, J, Maller, J, Samocha, KE, Sanders, J-SF, Ripke, S, Martin, J, Hollegaard, MV, Werge, T, Hougaard, DM, Neale, BM, Evans, DM, Skuse, D, Mortensen, PB, Børglum, AD, Ronald, A, Smith, GD, Daly, MJ & iPSYCH-SSI-Broad Autism Group 2016, 'Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population', Nature Genetics, bind 48, nr. 5, s. 552-5. https://doi.org/10.1038/ng.3529

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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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AU - Robinson, Elise B

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AU - Bulik-Sullivan, Brendan

AU - Grove, Jakob

AU - Maller, Julian

AU - Samocha, Kaitlin E

AU - Sanders, Jan-Stephan F

AU - Ripke, Stephan

AU - Martin, Joanna

AU - Hollegaard, Mads V

AU - Werge, Thomas

AU - Hougaard, David M.

AU - Neale, Benjamin M

AU - Evans, David M

AU - Skuse, David

AU - Mortensen, Preben Bo

AU - Børglum, Anders D

AU - Ronald, Angelica

AU - Smith, George Davey

AU - Daly, Mark J

AU - iPSYCH-SSI-Broad Autism Group

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N2 - 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.

AB - 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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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

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