Identification of common genetic risk variants for autism spectrum disorder Grove, Jakob Wray, Naomi R. Grove, Jakob Rivera Sánchez, Margarita Major Depressive Disorder Working Group 23andMe Research Team Published in final edited form as: Nat Genet. 2019 March ; 51(3): 431–444. 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. 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. 2019-11-21T08:33:11Z 2019-11-21T08:33:11Z 2019-04-09 journal article Grove et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. Author manuscript; available in PMC 2019 April 09. [https://doi.org/10.1038/s41588-019-0344-8] http://hdl.handle.net/10481/57999 10.1038/s41588-019-0344-8 eng http://creativecommons.org/licenses/by-nc-nd/3.0/es/ open access Atribución-NoComercial-SinDerivadas 3.0 España Springer Nature