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., 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: 552-555. doi:10.1038/ng.3529

Author 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.
Neale, Benjamin M.
Evans, David M.
Skuse, David
Mortensen, Preben Bo
Børglum, Anders D.
Ronald, Angelica
Smith, George Davey
Daly, Mark J.
Title Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
Publication date 2016-05-01
Year available 2016
Sub-type Article (original research)
DOI 10.1038/ng.3529
Open Access Status Not yet assessed
Volume 48
Issue 5
Start page 552
End page 555
Total pages 4
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Formatted 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.
Keyword Autism spectrum disorders (ASDs)
Neuropsychiatric symptoms
Genetic risk factors
Behavioral and developmental traits
Neuropsychiatric disease biology
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: HERDC Pre-Audit
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 48 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 51 times in Scopus Article | Citations
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