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; Hollegaard, Mads V.; Werge, Thomas; Hougaard, David M.; i Psych- S. S. I. Broad Autism Group; Neale, Benjamin M.; Evans, David M.; Skuse, David; Mortensen, Preben Bo; Borglum, Anders D.; Ronald, Angelica; Smith, George Davey; Daly, Mark J.

doi:10.1038/ng.3529

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

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St Pourcain, Beate
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Population genetics of human communication, MPI for Psycholinguistics, Max Planck Society;

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Robinson_StPourcain_etal_2016.pdf
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ng.3529-S1.pdf
(Supplementary material), 329KB

Citation

Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., et al. (2016). Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nature Genetics, 48, 552-555. doi:10.1038/ng.3529.

Cite as: https://hdl.handle.net/11858/00-001M-0000-002A-0963-8

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.