RT Journal Article
SR Electronic
T1 Common risk variants identified in autism spectrum disorder
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 224774
DO 10.1101/224774
A1 Jakob Grove
A1 Stephan Ripke
A1 Thomas D. Als
A1 Manuel Mattheisen
A1 Raymond Walters
A1 Hyejung Won
A1 Jonatan Pallesen
A1 Esben Agerbo
A1 Ole A. Andreassen
A1 Richard Anney
A1 Rich Belliveau
A1 Francesco Bettella
A1 Joseph D. Buxbaum
A1 Jonas Bybjerg-Grauholm
A1 Marie Bækved-Hansen
A1 Felecia Cerrato
A1 Kimberly Chambert
A1 Jane H. Christensen
A1 Claire Churchhouse
A1 Karin Dellenvall
A1 Ditte Demontis
A1 Silvia De Rubeis
A1 Bernie Devlin
A1 Srdjan Djurovic
A1 Ashle Dumont
A1 Jacqueline Goldstein
A1 Christine S. Hansen
A1 Mads Engel Hauberg
A1 Mads V. Hollegaard
A1 Sigrun Hope
A1 Daniel P. Howrigan
A1 Hailiang Huang
A1 Christina Hultman
A1 Lambertus Klei
A1 Julian Maller
A1 Joanna Martin
A1 Alicia R. Martin
A1 Jennifer Moran
A1 Mette Nyegaard
A1 Terje Nærland
A1 Duncan S. Palmer
A1 Aarno Palotie
A1 Carsten B. Pedersen
A1 Marianne G. Pedersen
A1 Timothy Poterba
A1 Jesper B. Poulsen
A1 Beate St Pourcain
A1 Per Qvist
A1 Karola Rehnström
A1 Avi Reichenberg
A1 Jennifer Reichert
A1 Elise B. Robinson
A1 Kathryn Roeder
A1 Panos Roussos
A1 Evald Saemundsen
A1 Sven Sandin
A1 F. Kyle Satterstrom
A1 George D. Smith
A1 Hreinn Stefansson
A1 Kari Stefansson
A1 Stacy Steinberg
A1 Christine Stevens
A1 Patrick F. Sullivan
A1 Patrick Turley
A1 G. Bragi Walters
A1 Xinyi Xu
A1 Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team
A1 Daniel Geschwind
A1 Merete Nordentoft
A1 David M. Hougaard
A1 Thomas Werge
A1 Ole Mors
A1 Preben Bo Mortensen
A1 Benjamin M. Neale
A1 Mark J. Daly
A1 Anders D. Børglum
YR 2017
UL http://biorxiv.org/content/early/2017/11/25/224774.abstract
AB 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.