Preben Bo Mortensen

Identification of common genetic risk variants for autism spectrum disorder

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

  • Jakob Grove
  • Stephan Ripke, Department of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, CCM, Berlin, Germany.
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  • Thomas D Als
  • Manuel Mattheisen
  • Raymond K Walters, Massachusetts General Hospital and Harvard Medical School, Broad Institute of Harvard and MIT
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  • Hyejung Won, UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA.
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  • Jonatan Pallesen
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  • Esben Agerbo
  • Ole A Andreassen, University of Oslo, Oslo University Hospital
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  • Richard Anney, National Centre for Mental Health, MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine, Cardiff University, Cardiff, UK.
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  • Swapnil Awashti, Department of Psychiatry and Psychotherapy, Charité Universitätsmedizin Berlin, CCM, Berlin, Germany.
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  • Rich Belliveau, Broad Institute of Harvard and MIT
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  • Francesco Bettella, NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, 0450, Norway., Oslo University Hospital
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  • Joseph D Buxbaum, Icahn School of Medicine at Mount Sinai
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  • Jonas Bybjerg-Grauholm, Statens Serum Institut
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  • Marie Bækvad-Hansen, Statens Serum Institut
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  • Felecia Cerrato, Broad Institute of Harvard and MIT
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  • Kimberly Chambert, Broad Institute of Harvard and MIT
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  • Jane H Christensen
  • Claire Churchhouse, Broad Institute of Harvard and MIT, Massachusetts General Hospital and Harvard Medical School
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  • Karin Dellenvall, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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  • Ditte Demontis
  • Silvia De Rubeis, Icahn School of Medicine at Mount Sinai
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  • Bernie Devlin, Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
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  • Srdjan Djurovic, Oslo University Hospital, NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, 0450, Norway.
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  • Ashley L Dumont, Broad Institute of Harvard and MIT
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  • Jacqueline I Goldstein, Broad Institute of Harvard and MIT, Massachusetts General Hospital and Harvard Medical School
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  • Christine S Hansen, Institute of Biological Psychiatry, MHC SctHans, Mental Health Services, Copenhagen, Denmark., Statens Serum Institut
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  • Mads Engel Hauberg
  • Mads V Hollegaard, Statens Serum Institut
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  • Sigrun Hope, Oslo University Hospital, University of Oslo
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  • Daniel P Howrigan, Massachusetts General Hospital and Harvard Medical School, Broad Institute of Harvard and MIT
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  • Hailiang Huang, Broad Institute of Harvard and MIT, Massachusetts General Hospital and Harvard Medical School
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  • Christina M Hultman, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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  • Lambertus Klei, Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
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  • Julian Maller, Vertex Pharmaceuticals, Abingdon, UK., Broad Institute of Harvard and MIT, Genomics plc
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  • Joanna Martin, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Broad Institute of Harvard and MIT, Cardiff University
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  • Alicia R Martin, Broad Institute of Harvard and MIT, Massachusetts General Hospital and Harvard Medical School
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  • Jennifer L Moran, Broad Institute of Harvard and MIT
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  • Mette Nyegaard
  • Terje Nærland, NevSom, Department of Rare Disorders and Disabilities, , Oslo University Hospital, Oslo, Norway., NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, 0450, Norway.
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  • Duncan S Palmer, Broad Institute of Harvard and MIT, Massachusetts General Hospital and Harvard Medical School
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  • Aarno Palotie, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, 00251, Finland., Broad Institute of Harvard and MIT, Massachusetts General Hospital and Harvard Medical School
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  • Carsten Bøcker Pedersen
  • Marianne Giørtz Pedersen
  • Timothy dPoterba, Massachusetts General Hospital and Harvard Medical School, Broad Institute of Harvard and MIT
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  • Jesper Buchhave Poulsen, Statens Serum Institut
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  • Beate St Pourcain, Bristol University, Max Planck Institute for Psycholinguistics, Donders Institute for Brain
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  • Per Qvist
  • Karola Rehnström, Wellcome Trust Sanger Institute, Cambridge
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  • Abraham Reichenberg, Icahn School of Medicine at Mount Sinai
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  • Jennifer Reichert, Icahn School of Medicine at Mount Sinai
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  • Elise B. Robinson, Massachusetts General Hospital and Harvard Medical School, Broad Institute
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  • Kathryn Roeder, Carnegie Mellon University
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  • Panos Roussos, Icahn School of Medicine at Mount Sinai
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  • Evald Saemundsen, The State Diagnostic and Counselling Centre, Island
  • Sven Sandin, Karolinska Institutet, Sverige
  • F. Kyle Satterstrom, Massachusetts General Hospital and Harvard Medical School, Broad Institute
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  • George Davey Smith, Bristol University, Ukendt
  • Hreinn Stefansson, DeCODE Genetics/Amgen
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  • Stacy Steinberg, deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.
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  • Christine Stevens, Broad Institute
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  • Patrick F Sullivan, The University of North Carolina at Chapel Hill, Department of Genetics, Chapel Hill, United States, Karolinska Institutet
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  • Patrick Turley, Massachusetts General Hospital and Harvard Medical School, Broad Institute
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  • G. Bragi Walters, DeCODE Genetics/Amgen, University of Iceland
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  • Xinyi Xu, Icahn School of Medicine at Mount Sinai
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  • Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium
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  • BUPGEN
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  • Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
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  • 23andMe Research Team
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  • Kari Stefansson, DeCODE Genetics/Amgen, University of Iceland, Danmark
  • Daniel H Geschwind, University of California Los Angeles, Danmark
  • Merete Nordentoft, Københavns Universitet, Danmark
  • David M. Hougaard, Statens Serum Institute, Copenhagen, Danmark
  • Thomas Werge, Mental Health Services Copenhagen, Københavns Universitet, Danmark
  • Ole Mors
  • Preben Bo Mortensen
  • Benjamin M Neale, Broad Institute, Massachusetts General Hospital and Harvard Medical School
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  • Mark J Daly, Broad Institute, Massachusetts General Hospital and Harvard Medical School, Danmark
  • Anders D Børglum

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.

OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind51
Nummer3
Sider (fra-til)431-444
Antal sider14
ISSN1061-4036
DOI
StatusUdgivet - feb. 2019

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