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, Stephan J 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

Research output: Contribution to journalArticle (Academic Journal)peer-review

208 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)552-555
Number of pages4
JournalNature Genetics
Issue number5
Publication statusPublished - May 2016


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  • MRC UoB UNITE Unit - Programme 1

    Davey Smith, G.


    Project: Research

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