Common risk variants identified in autism spectrum disorder
| Autor: | Julian Maller, Patrick Turley, Benjamin M. Neale, Terje Nærland, Bettella F, Elise B. Robinson, Manuel Mattheisen, A. Palotie, Evald Saemundsen, Jennifer L. Moran, Stacy Steinberg, Hong-Hee Won, E. Agerbo, Daniel P. Howrigan, Mark J. Daly, Srdjan Djurovic, St Pourcain B, Richard Anney, Jacqueline I. Goldstein, Marianne Giørtz Pedersen, Jennifer Reichert, A. Reichenberg, Kimberly Chambert, Bernie Devlin, Felecia Cerrato, Joanna Martin, Satterstrom Fk, Kathryn Roeder, Richard A. Belliveau, Stephan Ripke, De Rubeis S, Robin G. Walters, Hailiang Huang, Mette Nyegaard, Walters Gb, Jakob Grove, Ditte Demontis, Karola Rehnström, David M. Hougaard, Ole Mors, Sigrun Hope, Preben Bo Mortensen, Mads V. Hollegaard, Joseph D. Buxbaum, Sven Sandin, Cathy A. Stevens, Ole A. Andreassen, Duncan Palmer, Jesper Buchhave Poulsen, Carsten Bøcker Pedersen, Patrick F. Sullivan, Thomas Werge, Jane H. Christensen, Christine Søholm Hansen, Timothy Poterba, Jonatan Pallesen, Claire Churchhouse, Thomas Damm Als, Mads E. Hauberg, Anders D. Børglum, Jonas Bybjerg-Grauholm, Lambertus Klei, Kari Stefansson, Alicia R. Martin, Per Qvist, Ashley Dumont, Hreinn Stefansson, Panagiotis Roussos, Karin Dellenvall, George Davey Smith, Daniel H. Geschwind, Marie Bækved-Hansen, Merete Nordentoft, Christina M. Hultman, Xinyi Xu |
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| Rok vydání: | 2017 |
| Předmět: |
0303 health sciences
business.industry medicine.disease behavioral disciplines and activities 3. Good health 03 medical and health sciences 0302 clinical medicine Text mining Autism spectrum disorder mental disorders Medicine business 030217 neurology & neurosurgery 030304 developmental biology Clinical psychology |
| DOI: | 10.1101/224774 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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