Identification of common genetic risk variants for autism spectrum disorder.

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Serval ID
serval:BIB_FE7C7652D9C5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Identification of common genetic risk variants for autism spectrum disorder.
Journal
Nature genetics
Author(s)
Grove J., Ripke S., Als T.D., Mattheisen M., Walters R.K., Won H., Pallesen J., Agerbo E., Andreassen O.A., Anney R., Awashti S., Belliveau R., Bettella F., Buxbaum J.D., Bybjerg-Grauholm J., Bækvad-Hansen M., Cerrato F., Chambert K., Christensen J.H., Churchhouse C., Dellenvall K., Demontis D., De Rubeis S., Devlin B., Djurovic S., Dumont A.L., Goldstein J.I., Hansen C.S., Hauberg M.E., Hollegaard M.V., Hope S., Howrigan D.P., Huang H., Hultman C.M., Klei L., Maller J., Martin J., Martin A.R., Moran J.L., Nyegaard M., Nærland T., Palmer D.S., Palotie A., Pedersen C.B., Pedersen M.G., dPoterba T., Poulsen J.B., Pourcain B.S., Qvist P., Rehnström K., Reichenberg A., Reichert J., Robinson E.B., Roeder K., Roussos P., Saemundsen E., Sandin S., Satterstrom F.K., Davey Smith G., Stefansson H., Steinberg S., Stevens C.R., Sullivan P.F., Turley P., Walters G.B., Xu X., Stefansson K., Geschwind D.H., Nordentoft M., Hougaard D.M., Werge T., Mors O., Mortensen P.B., Neale B.M., Daly M.J., Børglum A.D.
Working group(s)
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team
Contributor(s)
Wray N.R., Trzaskowski M., Byrne E.M., Abdellaoui A., Adams M.J., Air T.M., Andlauer TFM, Bacanu S.A., Beekman ATF, Bigdeli T.B., Binder E.B., Blackwood DHR, Bryois J., Buttenschøn H.N., Cai N., Castelao E., Clarke T.K., Coleman JRI, Colodro-Conde L., Couvy-Duchesne B., Craddock N., Crawford G.E., Davies G., Deary I.J., Degenhardt F., Derks E.M., Direk N., Dolan C.V., Dunn E.C., Eley T.C., Escott-Price V., Kiadeh FFH, Finucane H.K., Forstner A.J., Frank J., Gaspar H.A., Gill M., Goes F.S., Gordon S.D., Hall L.S., Hansen T.F., Herms S., Hickie I.B., Hoffmann P., Homuth G., Horn C., Hottenga J.J., Ising M., Jansen R., Jorgenson E., Knowles J.A., Kohane I.S., Kraft J., Kretzschmar W.W., Krogh J., Kutalik Z., Li Y., Lind P.A., MacIntyre D.J., MacKinnon D.F., Maier R.M., Maier W., Marchini J., Mbarek H., McGrath P., McGuffin P., Medland S.E., Mehta D., Middeldorp C.M., Mihailov E., Milaneschi Y., Milani L., Mondimore F.M., Montgomery G.W., Mostafavi S., Mullins N., Nauck M., Ng B., Nivard M.G., Nyholt D.R., O'Reilly P.F., Oskarsson H., Owen M.J., Painter J.N., Peterson R.E., Pettersson E., Peyrot W.J., Pistis G., Posthuma D., Quiroz J.A., Rice J.P., Riley B.P., Rivera M., Mirza S.S., Schoevers R., Schulte E.C., Shen L., Shi J., Shyn S.I., Sigurdsson E., Sinnamon GCB, Smit J.H., Smith D.J., Streit F., Strohmaier J., Tansey K.E., Teismann H., Teumer A., Thompson W., Thomson P.A., Thorgeirsson T.E., Traylor M., Treutlein J., Trubetskoy V., Uitterlinden A.G., Umbricht D., Van der Auwera S., van Hemert A.M., Viktorin A., Visscher P.M., Wang Y., Webb B.T., Weinsheimer S.M., Wellmann J., Willemsen G., Witt S.H., Wu Y., Xi H.S., Yang J., Zhang F., Arolt V., Baune B.T., Berger K., Boomsma D.I., Cichon S., Dannlowski U., de Geus EJC, DePaulo J.R., Domenici E., Domschke K., Esko T., Grabe H.J., Hamilton S.P., Hayward C., Heath A.C., Kendler K.S., Kloiber S., Lewis G., Li Q.S., Lucae S., Madden PAF, Magnusson P.K., Martin N.G., McIntosh A.M., Metspalu A., Müller-Myhsok B., Nöthen M.M., O'Donovan M.C., Paciga S.A., Pedersen N.L., Penninx BWJH, Perlis R.H., Porteous D.J., Potash J.B., Preisig M., Rietschel M., Schaefer C., Schulze T.G., Smoller J.W., Tiemeier H., Uher R., Völzke H., Weissman M.M., Lewis C.M., Levinson D.F., Breen G., Agee M., Alipanahi B., Auton A., Bell R.K., Bryc K., Elson S.L., Fontanillas P., Furlotte N.A., Hromatka B.S., Huber K.E., Kleinman A., Litterman N.K., McIntyre M.H., Mountain J.L., Noblin E.S., Northover CAM, Pitts S.J., Sathirapongsasuti J.F., Sazonova O.V., Shelton J.F., Shringarpure S., Tung J.Y., Vacic V., Wilson C.H.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
03/2019
Peer-reviewed
Oui
Volume
51
Number
3
Pages
431-444
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.
Keywords
Adolescent, Autism Spectrum Disorder/genetics, Case-Control Studies, Child, Child, Preschool, Denmark, Female, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study/methods, Humans, Male, Multifactorial Inheritance/genetics, Phenotype, Polymorphism, Single Nucleotide/genetics, Risk Factors
OAI-PMH
oai:serval.unil.ch:BIB_FE7C7652D9C5
DOI
10.1038/s41588-019-0344-8
Pubmed
30804558
Web of science
000459947200012
Create date
23/05/2024 14:02
Last modification date
24/05/2024 7:06
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