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Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants

We analyze the exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) and 5,000 controls, and we find that ASD and ADHD have a similar burden of rare protein-truncating variants in evolutionarily constrained genes, b...

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Autores principales: Satterstrom, F. Kyle, Walters, Raymond K., Singh, Tarjinder, Wigdor, Emilie M., Lescai, Francesco, Demontis, Ditte, Kosmicki, Jack A., Grove, Jakob, Stevens, Christine, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Palmer, Duncan S., Maller, Julian B., Nordentoft, Merete, Mors, Ole, Robinson, Elise B., Hougaard, David M., Werge, Thomas M., Mortensen, Preben Bo, Neale, Benjamin M., Børglum, Anders D., Daly, Mark J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884695/
https://www.ncbi.nlm.nih.gov/pubmed/31768057
http://dx.doi.org/10.1038/s41593-019-0527-8
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author Satterstrom, F. Kyle
Walters, Raymond K.
Singh, Tarjinder
Wigdor, Emilie M.
Lescai, Francesco
Demontis, Ditte
Kosmicki, Jack A.
Grove, Jakob
Stevens, Christine
Bybjerg-Grauholm, Jonas
Bækvad-Hansen, Marie
Palmer, Duncan S.
Maller, Julian B.
Nordentoft, Merete
Mors, Ole
Robinson, Elise B.
Hougaard, David M.
Werge, Thomas M.
Mortensen, Preben Bo
Neale, Benjamin M.
Børglum, Anders D.
Daly, Mark J.
author_facet Satterstrom, F. Kyle
Walters, Raymond K.
Singh, Tarjinder
Wigdor, Emilie M.
Lescai, Francesco
Demontis, Ditte
Kosmicki, Jack A.
Grove, Jakob
Stevens, Christine
Bybjerg-Grauholm, Jonas
Bækvad-Hansen, Marie
Palmer, Duncan S.
Maller, Julian B.
Nordentoft, Merete
Mors, Ole
Robinson, Elise B.
Hougaard, David M.
Werge, Thomas M.
Mortensen, Preben Bo
Neale, Benjamin M.
Børglum, Anders D.
Daly, Mark J.
author_sort Satterstrom, F. Kyle
collection PubMed
description We analyze the exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) and 5,000 controls, and we find that ASD and ADHD have a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivates a combined analysis across ASD and ADHD, which identifies microtubule-associated protein 1A (MAP1A) as a novel exome-wide significant gene conferring risk for childhood psychiatric disorders.
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spelling pubmed-68846952020-05-25 Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants Satterstrom, F. Kyle Walters, Raymond K. Singh, Tarjinder Wigdor, Emilie M. Lescai, Francesco Demontis, Ditte Kosmicki, Jack A. Grove, Jakob Stevens, Christine Bybjerg-Grauholm, Jonas Bækvad-Hansen, Marie Palmer, Duncan S. Maller, Julian B. Nordentoft, Merete Mors, Ole Robinson, Elise B. Hougaard, David M. Werge, Thomas M. Mortensen, Preben Bo Neale, Benjamin M. Børglum, Anders D. Daly, Mark J. Nat Neurosci Article We analyze the exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD) and 5,000 controls, and we find that ASD and ADHD have a similar burden of rare protein-truncating variants in evolutionarily constrained genes, both significantly higher than controls. This motivates a combined analysis across ASD and ADHD, which identifies microtubule-associated protein 1A (MAP1A) as a novel exome-wide significant gene conferring risk for childhood psychiatric disorders. 2019-11-25 2019-12 /pmc/articles/PMC6884695/ /pubmed/31768057 http://dx.doi.org/10.1038/s41593-019-0527-8 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Satterstrom, F. Kyle
Walters, Raymond K.
Singh, Tarjinder
Wigdor, Emilie M.
Lescai, Francesco
Demontis, Ditte
Kosmicki, Jack A.
Grove, Jakob
Stevens, Christine
Bybjerg-Grauholm, Jonas
Bækvad-Hansen, Marie
Palmer, Duncan S.
Maller, Julian B.
Nordentoft, Merete
Mors, Ole
Robinson, Elise B.
Hougaard, David M.
Werge, Thomas M.
Mortensen, Preben Bo
Neale, Benjamin M.
Børglum, Anders D.
Daly, Mark J.
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
title Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
title_full Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
title_fullStr Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
title_full_unstemmed Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
title_short Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
title_sort autism spectrum disorder (asd) and attention-deficit/hyperactivity disorder (adhd) have a similar burden of rare protein-truncating variants
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884695/
https://www.ncbi.nlm.nih.gov/pubmed/31768057
http://dx.doi.org/10.1038/s41593-019-0527-8
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