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Identification of common genetic risk variants for autism spectrum disorder

Research output: Contribution to journalArticle

  • BUPGEN
  • 23AndMe Res Team
  • Psychiat Genomics Consortium
  • Julien Maller
  • Joanna Martin
  • Alicia Martin
  • J Moran
  • M Nyegaard
  • T Naerland
  • D Palmer
  • A Palotie
  • C Bocker Perdersen
  • M Giortz Pedersen
  • T dPoterba
  • J Buchhave Poulsen
  • B St Poucain
  • P Qvist
  • K Rehnstrom
  • A Reichenberg
  • J Reichert
  • E B Robinson
  • K Roeder
  • P Roussos
  • E Saemundsen
  • S Sandin
  • F K Satterstrom
  • G D Smith
  • H Stefansson
  • S Steinberg
  • C R Stevens
  • P F Sullivan
  • P Turley
  • G B Walters
  • X Xu
  • K Stefansson
  • D H Geschwind
  • M Nordentoft
  • D M Hougaard
  • T Werge
  • O Mors
  • P B Mortensen
  • B M Neale
  • M J Daly
  • A D Borglum

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Original languageEnglish
Pages (from-to)431-+
Number of pages16
JournalNature Genetics
Volume51
Issue number3
Early online date25 Feb 2019
DOIs
Publication statusPublished - Mar 2019

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.

    Research areas

  • GENOME-WIDE ASSOCIATION, SIMONS SIMPLEX COLLECTION, LD SCORE REGRESSION, DE-NOVO, SYNAPTIC PLASTICITY, NEURITE OUTGROWTH, CELL-SURFACE, LOCI, HERITABILITY, METAANALYSIS

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