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

F Kyle Satterstrom; Raymond K Walters; Tarjinder Singh; Emilie M Wigdor; Francesco Lescai; Ditte Demontis; Jack A Kosmicki; Jakob Grove; Christine Stevens; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Duncan S Palmer; Julian B Maller; Merete Nordentoft; Ole Mors; Elise B Robinson; David M Hougaard; Thomas M. Werge; Preben Bo Mortensen; Benjamin M Neale; Anders D Børglum; Mark J Daly; iPSYCH-Broad Consortium

doi:10.1038/s41593-019-0527-8

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

F Kyle Satterstrom, Raymond K Walters, Tarjinder Singh, Emilie M Wigdor, Francesco Lescai, Ditte Demontis, Jack A Kosmicki, Jakob Grove, Christine Stevens, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, Duncan S Palmer, Julian B Maller, Merete Nordentoft, Ole Mors, Elise B Robinson, David M Hougaard, Thomas M. Werge, Preben Bo Mortensen, Benjamin M NealeAnders D Børglum, Mark J Daly, iPSYCH-Broad Consortium

Institut for Klinisk Medicin

28 Citationer (Scopus)

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Nature Neuroscience
Vol/bind	22
Udgave nummer	12
Sider (fra-til)	1961-1965
Antal sider	5
ISSN	1097-6256
DOI	https://doi.org/10.1038/s41593-019-0527-8
Status	Udgivet - 1 dec. 2019

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10.1038/s41593-019-0527-8

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Satterstrom, F. K., Walters, R. K., Singh, T., Wigdor, E. M., Lescai, F., Demontis, D., Kosmicki, J. A., Grove, J., Stevens, C., Bybjerg-Grauholm, J., Bækvad-Hansen, M., Palmer, D. S., Maller, J. B., Nordentoft, M., Mors, O., Robinson, E. B., Hougaard, D. M., Werge, T. M., Bo Mortensen, P., ... iPSYCH-Broad Consortium (2019). Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nature Neuroscience, 22(12), 1961-1965. https://doi.org/10.1038/s41593-019-0527-8

Satterstrom, FK, Walters, RK, Singh, T, Wigdor, EM, Lescai, F, Demontis, D, Kosmicki, JA, Grove, J, Stevens, C, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Palmer, DS, Maller, JB, Nordentoft, M, Mors, O, Robinson, EB, Hougaard, DM, Werge, TM, Bo Mortensen, P, Neale, BM, Børglum, AD, Daly, MJ & iPSYCH-Broad Consortium 2019, 'Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants', Nature Neuroscience, bind 22, nr. 12, s. 1961-1965. https://doi.org/10.1038/s41593-019-0527-8

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

abstract = "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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AU - Satterstrom, F Kyle

AU - Walters, Raymond K

AU - Singh, Tarjinder

AU - Wigdor, Emilie M

AU - Lescai, Francesco

AU - Demontis, Ditte

AU - Kosmicki, Jack A

AU - Grove, Jakob

AU - Stevens, Christine

AU - Bybjerg-Grauholm, Jonas

AU - Bækvad-Hansen, Marie

AU - Palmer, Duncan S

AU - Maller, Julian B

AU - Nordentoft, Merete

AU - Mors, Ole

AU - Robinson, Elise B

AU - Hougaard, David M

AU - Werge, Thomas M.

AU - Bo Mortensen, Preben

AU - Neale, Benjamin M

AU - Børglum, Anders D

AU - Daly, Mark J

AU - iPSYCH-Broad Consortium

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N2 - 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.

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

Abstract

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