Cargando…
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1783474597418500096 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6884695 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT satterstromfkyle autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT waltersraymondk autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT singhtarjinder autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT wigdoremiliem autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT lescaifrancesco autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT demontisditte autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT kosmickijacka autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT grovejakob autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT stevenschristine autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT bybjerggrauholmjonas autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT bækvadhansenmarie autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT palmerduncans autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT mallerjulianb autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT nordentoftmerete autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT morsole autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT robinsoneliseb autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT hougaarddavidm autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT wergethomasm autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT mortensenprebenbo autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT nealebenjaminm autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT børglumandersd autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants AT dalymarkj autismspectrumdisorderasdandattentiondeficithyperactivitydisorderadhdhaveasimilarburdenofrareproteintruncatingvariants |