Identification of common genetic risk variants for autism spectrum disorder

J Grove; S Ripke; TD Als; M Mattheisen; RK Walters; H Won; J Pallesen; E Agerbo; OA Andreassen; R Anney; S Awashti; R Belliveau; F Bettella; JD Buxbaum; J Bybjerg-Grauholm; M Bækvad-Hansen; F Cerrato; K Chambert; JH Christensen; C Churchhouse; K Dellenvall; D Demontis; S De Rubeis; B Devlin; S Djurovic; AL Dumont; JI Goldstein; CS Hansen; ME Hauberg; MV Hollegaard; S Hope; DP Howrigan; H Huang; CM Hultman; L Klei; J Maller; J Martin; AR Martin; JL Moran; M Nyegaard; T Nærland; DS Palmer; A Palotie; CB Pedersen; MG Pedersen; T dPoterba; JB Poulsen; BS Pourcain; P Qvist; K Rehnström; A Reichenberg; J Reichert; EB Robinson; K Roeder; P Roussos; E Saemundsen; S Sandin; FK Satterstrom; G Davey Smith; H Stefansson; S Steinberg; CR Stevens; PF Sullivan; P Turley; GB Walters; X Xu; NR Wray; M Trzaskowski; EM Byrne; A Abdellaoui; MJ Adams; TM Air; TFM Andlauer; SA Bacanu; ATF Beekman; TB Bigdeli; EB Binder; DHR Blackwood; J Bryois; HN Buttenschøn; N Cai; E Castelao; TK Clarke; JRI Coleman; L Colodro-Conde; B Couvy-Duchesne; N Craddock; GE Crawford; G Davies; IJ Deary; F Degenhardt; EM Derks; N Direk; CV Dolan; EC Dunn; TC Eley; V Escott-Price; FFH Kiadeh; HK Finucane; AJ Forstner

Journal article

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters, H Won, J Pallesen, E Agerbo, OA Andreassen, R Anney, S Awashti, R Belliveau, F Bettella, JD Buxbaum, J Bybjerg-Grauholm, M Bækvad-Hansen, F Cerrato, K Chambert, JH Christensen, C Churchhouse Show all

Nature Genetics | NATURE PORTFOLIO | Published : 2019

DOI: 10.1038/s41588-019-0344-8

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..

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University of Melbourne Researchers

Prof Bernhard Baune Author

Grants

Awarded by National Institute of Mental Health

Funding Acknowledgements

The iPSYCH project is funded by the Lundbeck Foundation (R102-A9118 and R155-2014-1724) and the universities and university hospitals of Aarhus and Copenhagen. Genotyping of iPSYCH and PGC samples was supported by grants from the Lundbeck Foundation, the Stanley Foundation, the Simons Foundation (SFARI 311789 to M.J.D.), and NIMH (5U01MH094432-02 to M.J.D.). The Danish National Biobank resource was supported by the Novo Nordisk Foundation. Data handling and analysis on the GenomeDK HPC facility was supported by NIMH (1U01MH109514-01 to M.C.O.D and A.D.B.). High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to A.D.B.). S.D.R. and J.D.B. were supported by NIH grants MH097849 (to J.D.B.) and MH111661 (to J.D.B.), and by the Seaver Foundation (to S.D.R. and J.D.B.). J. Martine was supported by the Wellcome Trust (grant 106047). O.A.A. received funding from the Research Council of Norway (213694, 223273, 248980, and 248778), Stiftelsen KG Jebsen, and South-East Norway Health Authority. We thank the research participants and employees of 23andMe for making this work possible.