Identification of common genetic risk variants for autism spectrum disorder

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Grove, Jakob, Ripke, Stephan, Als, Thomas D, Mattheisen, Manuel, Walters, Raymond K, Won, Hyejung, Pallesen, Jonatan, Agerbo, Esben, Andreassen, Ole A, Anney, Richard et al (show 266 more authors) , Awashti, Swapnil, Belliveau, Rich, Bettella, Francesco, Buxbaum, Joseph D, Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Christensen, Jane H, Churchhouse, Claire, Dellenvall, Karin, Demontis, Ditte, De Rubeis, Silvia, Devlin, Bernie, Djurovic, Srdjan, Dumont, Ashley L, Goldstein, Jacqueline I, Hansen, Christine S, Hauberg, Mads Engel, Hollegaard, Mads V, Hope, Sigrun, Howrigan, Daniel P, Huang, Hailiang, Hultman, Christina M, Klei, Lambertus, Maller, Julian, Martin, Joanna, Martin, Alicia R, Moran, Jennifer L, Nyegaard, Mette, Naerland, Terje, Palmer, Duncan S, Palotie, Aarno, Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, dPoterba, Timothy, Poulsen, Jesper Buchhave, St Pourcain, Beate, Qvist, Per, Rehnstrom, Karola, Reichenberg, Abraham, Reichert, Jennifer, Robinson, Elise B, Roeder, Kathryn, Roussos, Panos, Saemundsen, Evald, Sandin, Sven, Satterstrom, F Kyle, Smith, George Davey, Stefansson, Hreinn, Steinberg, Stacy, Stevens, Christine R, Sullivan, Patrick F, Turley, Patrick, Walters, G Bragi, Xu, Xinyi, Stefansson, Kari, Geschwind, Daniel H, Nordentoft, Merete, Hougaard, David M, Werge, Thomas, Mors, Ole, Mortensen, Preben Bo, Neale, Benjamin M, Daly, Mark J, Borglum, Anders D, Wray, Naomi R, Trzaskowski, Maciej, Byrne, Enda M, Abdellaoui, Abdel, Adams, Mark J, Air, Tracy M, Andlauer, Till FM, Bacanu, Silviu-Alin, Beekman, Aartjan TF, Bigdeli, Tim B, Binder, Elisabeth B, Blackwood, Douglas HR, Bryois, Julien, Buttenschon, Henriette N, Cai, Na, Castelao, Enrique, Clarke, Toni-Kim, Coleman, Jonathan RI, Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E, Davies, Gail, Deary, Ian J, Degenhardt, Franziska, Derks, Eske M, Direk, Nese, Dolan, Conor V, Dunn, Erin C, Eley, Thalia C, Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K, Forstner, Andreas J, Frank, Josef, Gaspar, Helena A, Gill, Michael, Goes, Fernando S, Gordon, Scott D, Hall, Lynsey S, Hansen, Thomas F, Herms, Stefan, Hickie, Ian B, Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Ising, Marcus, Jansen, Rick, Jorgenson, Eric, Knowles, James A, Kohane, Isaac S, Kraft, Julia, Kretzschmar, Warren W, Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A, MacIntyre, Donald J, MacKinnon, Dean F, Maier, Robert M, Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E, Mehta, Divya, Middeldorp, Christel M, Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M, Montgomery, Grant W, Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G, Nyholt, Dale R, O'Reilly, Paul F, Oskarsson, Hogni, Owen, Michael J, Painter, Jodie N, Peterson, Roseann E, Pettersson, Erik, Peyrot, Wouter J, Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A, Rice, John P, Riley, Brien P, Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C, Shen, Ling, Shi, Jianxin, Shyn, Stanley I, Sigurdsson, Engilbert, Sinnamon, Grant CB, Smit, Johannes H, Smith, Daniel J, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E, Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A, Thorgeirsson, Thorgeir E, Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andr G, Umbricht, Daniel, Van Der Auwera, Sandra, van Hemert, Albert M, Viktorin, Alexander, Visscher, Peter M, Wang, Yunpeng, Webb, Bradley T, Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H, Wu, Yang, Xi, Hualin S, Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T, Berger, Klaus, Boomsma, Dorret I, Cichon, Sven, Dannlowski, Udo, de Geus, EJC, DePaulo, J Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J, Hamilton, Steven P, Hayward, Caroline, Heath, Andrew C, Kendler, Kenneth S, Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S, Lucae, Susanne, Madden, Pamela AF, Magnusson, Patrik K, Martin, Nicholas G, McIntosh, Andrew M, Metspalu, Andres, Mueller-Myhsok, Bertram ORCID: 0000-0002-0719-101X, Noethen, Markus M, O'Donovan, Michael C, Paciga, Sara A, Pedersen, Nancy L, Penninx, Brenda WJH, Perlis, Roy H, Porteous, David J, Potash, James B, Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G, Smoller, Jordan W, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M, Lewis, Cathryn M, Levinson, Douglas F, Breen, Gerome, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K, Bryc, Katarzyna, Elson, Sarah L, Fontanillas, Pierre, Furlotte, Nicholas A, Hromatka, Bethann S, Huber, Karen E, Kleinman, Aaron, Litterman, Nadia K, McIntyre, Matthew H, Mountain, Joanna L, Noblin, Elizabeth S, Northover, Carrie AM, Pitts, Steven J, Sathirapongsasuti, J Fah, Sazonova, Olga V, Shelton, Janie F, Shringarpure, Suyash, Tung, Joyce Y, Vacic, Vladimir and Wilson, Catherine H (2019) Identification of common genetic risk variants for autism spectrum disorder. NATURE GENETICS, 51 (3). 431-+.

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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.

Item Type:	Article
Uncontrolled Keywords:	Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Humans, Genetic Predisposition to Disease, Risk Factors, Case-Control Studies, Multifactorial Inheritance, Phenotype, Polymorphism, Single Nucleotide, Adolescent, Child, Child, Preschool, Denmark, Female, Male, Genome-Wide Association Study, Autism Spectrum Disorder
Depositing User:	Symplectic Admin
Date Deposited:	12 Jun 2019 08:37
Last Modified:	19 Jan 2023 00:40
DOI:	10.1038/s41588-019-0344-8
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3045243