4.7 Article

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

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NATURE NEUROSCIENCE
卷 22, 期 12, 页码 1961-+

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NATURE PUBLISHING GROUP
DOI: 10.1038/s41593-019-0527-8

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资金

  1. Lundbeck Foundation [R102-A9118, R155-2014-1724]
  2. university of Aarhus
  3. university of Copenhagen
  4. university hospital of Aarhus
  5. university hospital of Copenhagen
  6. Novo Nordisk Foundation
  7. Simons Foundation [SFARI 311789]
  8. Stanley Foundation
  9. National Institute of Mental Health [5U01MH094432-02, 5U01MH111660-02, U01MH100229]
  10. Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark

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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.

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