The Levy Library Blog

Article in the Spotlight: July 2019

Each month Levy Library showcases the achievements of Mount Sinai faculty and researchers by highlighting an article and its altmetrics. Altmetrics are alternative measures of impact that capture non-traditional data like abstract views, article downloads, and social media activity. Our altmetrics data is provided by the PlumX platform. 

This month we highlight: Identification of common genetic risk variants for autism spectrum disorder. This article was written in part by Niamh Mulins, Postdoctoral Fellow in Biomedical Sciences, Avraham Reichenberg, Professor in Psychiatry, Sven S. Sandin, Assistant Professor in Psychiatry, and Panagiotis Roussos, Assistant Professor in Psychiatry. 

Citation

Nature genetics, ISSN: 1546-1718, Vol: 51, Issue: 3, Page: 431-444

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.

Genetic correlation with other traits

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