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

Robinson, Elise B., St Pourcain, Beate, Anttila, Verneri, Kosmicki, Jack A., Bulik-Sullivan, Brendan, Grove, Jakob, Maller, Julian, Samocha, Kaitlin E., Sanders, Stephan J., Ripke, Stephan, Martin, Joanna ORCID: https://orcid.org/0000-0002-8911-3479, Hollegaard, Mads V., Werge, Thomas, Hougaard, David M., Als, Thomas D., Baekvad-Hansen, Marie, Belliveau, Richard, Demontis, Ditte, Dumont, Ashley, Goldstein, Jacqueline, Grauholm, Jonas, Hansen, Christine S., Hansen, Thomas F., Howrigan, Daniel, Lescai, Francesco, Mattheisen, Manuel, Moran, Jennifer, Mors, Ole, Nordentoft, Merete, Norgaard-Pedersen, Bent, Poterba, Timothy, Poulsen, Jesper, Stevens, Christine, Walters, Raymond, Neale, Benjamin M., Evans, David M., Skuse, David, Mortensen, Preben Bo, Børglum, Anders D., Ronald, Angelica, Smith, George Davey and Daly, Mark J. 2016. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nature Genetics 48 (5) , pp. 552-555. 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Nature
ISSN:	1061-4036
Date of Acceptance:	22 February 2016
Last Modified:	01 Nov 2022 11:36
URI:	https://orca.cardiff.ac.uk/id/eprint/95546

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