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Common risk variants identified in autism spectrum disorder

By Jakob Grove, Stephan Ripke, Thomas D. Als, Manuel Mattheisen, Raymond Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A Andreassen, Richard Anney, Rich Belliveau, Francesco Bettella, Joseph D. Buxbaum, Jonas Bybjerg-Grauholm, Marie Bækved-Hansen, Felecia Cerrato, Kimberly Chambert, Jane H Christensen, Claire Churchhouse, Karin Dellenvall, Ditte Demontis, Silvia De Rubeis, Bernie Devlin, Srdjan Djurovic, Ashle Dumont, Jacqueline Goldstein, Christine S. Hansen, Mads Engel Hauberg, Mads V Hollegaard, Sigrun Hope, Daniel P Howrigan, Hailiang Huang, Christina Hultman, Lambertus Klei, Julian Maller, Joanna Martin, Alicia R. Martin, Jennifer Moran, Mette Nyegaard, Terje Nærland, Duncan S. Palmer, Aarno Palotie, Carsten B Pedersen, Marianne G Pedersen, Timothy Poterba, Jesper B Poulsen, Beate Pourcain, Per Qvist, Karola Rehnström, Avi Reichenberg, Jennifer Reichert, Elise B Robinson, Kathryn Roeder, Panos Roussos, Evald Saemundsen, Sven Sandin, F. Kyle Satterstrom, George D Smith, Hreinn Stefansson, Kari Stefansson, Stacy Steinberg, Christine Stevens, Patrick F Sullivan, Patrick Turley, G. Bragi Walters, Xinyi Xu, Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Daniel Geschwind, Merete Nordentoft, David M Hougaard, Thomas Werge, Ole Mors, Preben Bo Mortensen, Benjamin M. Neale, Mark J. Daly, Anders D. Borglum

Posted 25 Nov 2017
bioRxiv DOI: 10.1101/224774 (published DOI: 10.1038/s41588-019-0344-8)

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 ASD cases and 27,969 controls that identifies five genome-wide significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), seven additional loci shared with other traits are identified at equally strict significance levels. Dissecting the polygenic architecture we find both quantitative and qualitative polygenic heterogeneity across ASD subtypes, in contrast to what is typically seen in other complex disorders. 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, just as it has been in a broad range of important psychiatric and diverse medical phenotypes.

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