Common risk variants identified in autism spectrum disorder
Thomas D. Als,
Ole A Andreassen,
Joseph D. Buxbaum,
Jane H Christensen,
Silvia De Rubeis,
Christine S. Hansen,
Mads Engel Hauberg,
Mads V Hollegaard,
Daniel P Howrigan,
Alicia R. Martin,
Duncan S. Palmer,
Carsten B Pedersen,
Marianne G Pedersen,
Jesper B Poulsen,
Elise B Robinson,
F. Kyle Satterstrom,
George D Smith,
Patrick F Sullivan,
G. Bragi Walters,
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team,
David M Hougaard,
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)
Posted 25 Nov 2017
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.
- Downloaded 7,028 times
- Download rankings, all-time:
- Site-wide: 502 out of 100,936
- In genetics: 38 out of 5,022
- Year to date:
- Site-wide: 2,972 out of 100,936
- Since beginning of last month:
- Site-wide: 1,226 out of 100,936
Downloads over time
Distribution of downloads per paper, site-wide
- 20 Oct 2020: Support for sorting preprints using Twitter activity has been removed, at least temporarily, until a new source of social media activity data becomes available.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!