Ditte Demontis

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

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

  • F Kyle Satterstrom, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. satterst@broadinstitute.org.
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  • Raymond K Walters, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
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  • Tarjinder Singh, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
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  • Emilie M Wigdor, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
  • ,
  • Francesco Lescai
  • Ditte Demontis
  • Jack A Kosmicki, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
  • ,
  • Jakob Grove
  • Christine Stevens, 1] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA [2] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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  • Jonas Bybjerg-Grauholm, Danish Centre for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark
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  • Marie Bækvad-Hansen, Danish Centre for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark
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  • Duncan S Palmer, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
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  • Julian B Maller, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.
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  • iPSYCH-Broad Consortium
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  • Merete Nordentoft, Mental Health Centre Copenhagen, Mental Health Services in the Capital Region of Denmark, University of Copenhagen, Copenhagen, Denmark
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  • Ole Mors
  • Elise B Robinson, Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
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  • David M Hougaard, Danish Centre for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark
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  • Thomas M Werge, Department of Cardiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark Danish Arrhythmia Research Centre, University of Copenhagen, Copenhagen, Denmark.
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  • Preben Bo Mortensen
  • Benjamin M Neale, Department of Epidemiology, Harvard School of Public Health, Harvard University, Boston, MA, USA; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA; Department of Medicine, Harvard Medical School, Boston, MA, USA.
  • ,
  • Anders D Børglum
  • Mark J Daly, Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland. mjdaly@atgu.mgh.harvard.edu.

The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with ASD and individuals with ADHD had a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivated a combined analysis across ASD and ADHD, identifying microtubule-associated protein 1A (MAP1A) as a new exome-wide significant gene conferring risk for childhood psychiatric disorders.

OriginalsprogEngelsk
TidsskriftNature Neuroscience
Vol/bind22
Nummer12
Sider (fra-til)1961-1965
Antal sider5
ISSN1097-6256
DOI
StatusUdgivet - 2019

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