作者
Jakob Grove, Stephan Ripke, Thomas D Als, Manuel Mattheisen, Raymond K Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A Andreassen, Richard Anney, Swapnil Awashti, Rich Belliveau, Francesco Bettella, Joseph D Buxbaum, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, Felecia Cerrato, Kimberly Chambert, Jane H Christensen, Claire Churchhouse, Karin Dellenvall, Ditte Demontis, Silvia De Rubeis, Bernie Devlin, Srdjan Djurovic, Ashley L Dumont, Jacqueline I Goldstein, Christine S Hansen, Mads Engel Hauberg, Mads V Hollegaard, Sigrun Hope, Daniel P Howrigan, Hailiang Huang, Christina M Hultman, Lambertus Klei, Julian Maller, Joanna Martin, Alicia R Martin, Jennifer L Moran, Mette Nyegaard, Terje Nærland, Duncan S Palmer, Aarno Palotie, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Timothy Dpoterba, Jesper Buchhave Poulsen, Beate St Pourcain, Per Qvist, Karola Rehnström, Abraham Reichenberg, Jennifer Reichert, Elise B Robinson, Kathryn Roeder, Panos Roussos, Evald Saemundsen, Sven Sandin, F Kyle Satterstrom, George Davey Smith, Hreinn Stefansson, Stacy Steinberg, Christine R Stevens, Patrick F Sullivan, Patrick Turley, G Bragi Walters, Xinyi Xu, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, BUPGEN, Kari Stefansson, Daniel H Geschwind, Merete Nordentoft, David M Hougaard, Thomas Werge, Ole Mors, Preben Bo Mortensen, Benjamin M Neale, Mark J Daly, Anders D Børglum
发表日期
2019/3
期刊
Nature genetics
卷号
51
期号
3
页码范围
431-444
出版商
Nature Publishing Group US
简介
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 …
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