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 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, 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 journal › Article (Academic Journal) › peer-review

273 Citations (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.

Original language	English
Pages (from-to)	552-555
Number of pages	4
Journal	Nature Genetics
Volume	48
Issue number	5
DOIs	https://doi.org/10.1038/ng.3529
Publication status	Published - May 2016

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Davey Smith, G. (Principal Investigator)
1/06/13 → 31/03/18
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Professor George Davey Smith
- KZ.Davey-Smithbristol.acuk
- MRC Integrative Epidemiology Unit
- Bristol Medical School (PHS) - Professor of Clinical Epidemiology
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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, S. J., 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), 552-555. https://doi.org/10.1038/ng.3529

@article{444277fc81934d12b98bd1b9e68b847a,

title = "Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population",

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.",

author = "Robinson, {Elise B} and {St Pourcain}, Beate and Verneri Anttila and Kosmicki, {Jack A} and Brendan Bulik-Sullivan and Jakob Grove and Julian Maller and Samocha, {Kaitlin E} and Sanders, {Stephan J} and Stephan Ripke and Joanna Martin and Hollegaard, {Mads V} and Thomas Werge and Hougaard, {David M} and Neale, {Benjamin M} and Evans, {David M} and David Skuse and Mortensen, {Preben Bo} and B{\o}rglum, {Anders D} and Angelica Ronald and Smith, {George Davey} and Daly, {Mark J} and {iPSYCH-SSI-Broad Autism Group}",

year = "2016",

month = may,

doi = "10.1038/ng.3529",

language = "English",

volume = "48",

pages = "552--555",

journal = "Nature Genetics",

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Robinson, EB, St Pourcain, B, Anttila, V, Kosmicki, JA, Bulik-Sullivan, B, Grove, J, Maller, J, Samocha, KE, Sanders, SJ, 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, vol. 48, no. 5, pp. 552-555. https://doi.org/10.1038/ng.3529

TY - JOUR

T1 - Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

AU - Robinson, Elise B

AU - St Pourcain, Beate

AU - Anttila, Verneri

AU - Kosmicki, Jack A

AU - Bulik-Sullivan, Brendan

AU - Grove, Jakob

AU - Maller, Julian

AU - Samocha, Kaitlin E

AU - Sanders, Stephan J

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

PY - 2016/5

Y1 - 2016/5

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.

U2 - 10.1038/ng.3529

DO - 10.1038/ng.3529

M3 - Article (Academic Journal)

C2 - 26998691

SN - 1061-4036

VL - 48

SP - 552

EP - 555

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -

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

Abstract

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