PortalPublikationenInvestigating the contributions of circadian pathway and ins...

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

Standard

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances. / Tesfaye, Rackeb; Huguet, Guillaume; Schmilovich, Zoe; Renne, Thomas; Loum, Mor Absa; Douard, Elise; Saci, Zohra; Jean-Louis, Martineau; Martineau, Jean Luc; Whelan, Rob; Desrivieres, Sylvane; Heinz, Andreas; Schumann, Gunter; Hayward, Caroline; Elsabbagh, Mayada; Jacquemont, Sebastien.

in: TRANSL PSYCHIAT, Jahrgang 12, Nr. 1, 424, 03.10.2022.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Tesfaye, R, Huguet, G, Schmilovich, Z, Renne, T, Loum, MA, Douard, E, Saci, Z, Jean-Louis, M, Martineau, JL, Whelan, R, Desrivieres, S, Heinz, A, Schumann, G, Hayward, C, Elsabbagh, M & Jacquemont, S 2022, 'Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances', TRANSL PSYCHIAT, Jg. 12, Nr. 1, 424. https://doi.org/10.1038/s41398-022-02188-2

APA

Tesfaye, R., Huguet, G., Schmilovich, Z., Renne, T., Loum, M. A., Douard, E., Saci, Z., Jean-Louis, M., Martineau, J. L., Whelan, R., Desrivieres, S., Heinz, A., Schumann, G., Hayward, C., Elsabbagh, M., & Jacquemont, S. (2022). Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances. TRANSL PSYCHIAT, 12(1), [424]. https://doi.org/10.1038/s41398-022-02188-2

Vancouver

Tesfaye R, Huguet G, Schmilovich Z, Renne T, Loum MA, Douard E et al. Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances. TRANSL PSYCHIAT. 2022 Okt 3;12(1). 424. https://doi.org/10.1038/s41398-022-02188-2

Bibtex

@article{67e5a2cf0b4e4db1966297d98e9f8a4c,
title = "Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances",
abstract = "Sleep disturbance is prevalent in youth with Autism Spectrum Disorder (ASD). Researchers have posited that circadian dysfunction may contribute to sleep problems or exacerbate ASD symptomatology. However, there is limited genetic evidence of this. It is also unclear how insomnia risk genes identified through GWAS in general populations are related to ASD and common sleep problems like insomnia traits in ASD. We investigated the contribution of copy number variants (CNVs) encompassing circadian pathway genes and insomnia risk genes to ASD risk as well as sleep disturbances in children with ASD. We studied 5860 ASD probands and 2092 unaffected siblings from the Simons Simplex Collection (SSC) and MSSNG database, as well as 7509 individuals from two unselected populations (IMAGEN and Generation Scotland). Sleep duration and insomnia symptoms were parent reported for SSC probands. We identified 335 and 616 rare CNVs encompassing circadian and insomnia risk genes respectively. Deletions and duplications with circadian genes were overrepresented in ASD probands compared to siblings and unselected controls. For insomnia-risk genes, deletions (not duplications) were associated with ASD in both cohorts. Results remained significant after adjusting for cognitive ability. CNVs containing circadian pathway and insomnia risk genes showed a stronger association with ASD, compared to CNVs containing other genes. Circadian genes did not influence sleep duration or insomnia traits in ASD. Insomnia risk genes intolerant to haploinsufficiency increased risk for insomnia when duplicated. CNVs encompassing circadian and insomnia risk genes increase ASD liability with little to no observable impacts on sleep disturbances.",
keywords = "Adolescent, Autism Spectrum Disorder/complications, Autistic Disorder, Child, Humans, Sleep, Sleep Initiation and Maintenance Disorders/complications, Sleep Wake Disorders",
author = "Rackeb Tesfaye and Guillaume Huguet and Zoe Schmilovich and Thomas Renne and Loum, {Mor Absa} and Elise Douard and Zohra Saci and Martineau Jean-Louis and Martineau, {Jean Luc} and Rob Whelan and Sylvane Desrivieres and Andreas Heinz and Gunter Schumann and Caroline Hayward and Mayada Elsabbagh and Sebastien Jacquemont",
note = "{\textcopyright} 2022. The Author(s).",
year = "2022",
month = oct,
day = "3",
doi = "10.1038/s41398-022-02188-2",
language = "English",
volume = "12",
journal = "TRANSL PSYCHIAT",
issn = "2158-3188",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

T1 - Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

AU - Tesfaye, Rackeb

AU - Huguet, Guillaume

AU - Schmilovich, Zoe

AU - Renne, Thomas

AU - Loum, Mor Absa

AU - Douard, Elise

AU - Saci, Zohra

AU - Jean-Louis, Martineau

AU - Martineau, Jean Luc

AU - Whelan, Rob

AU - Desrivieres, Sylvane

AU - Heinz, Andreas

AU - Schumann, Gunter

AU - Hayward, Caroline

AU - Elsabbagh, Mayada

AU - Jacquemont, Sebastien

N1 - © 2022. The Author(s).

PY - 2022/10/3

Y1 - 2022/10/3

N2 - Sleep disturbance is prevalent in youth with Autism Spectrum Disorder (ASD). Researchers have posited that circadian dysfunction may contribute to sleep problems or exacerbate ASD symptomatology. However, there is limited genetic evidence of this. It is also unclear how insomnia risk genes identified through GWAS in general populations are related to ASD and common sleep problems like insomnia traits in ASD. We investigated the contribution of copy number variants (CNVs) encompassing circadian pathway genes and insomnia risk genes to ASD risk as well as sleep disturbances in children with ASD. We studied 5860 ASD probands and 2092 unaffected siblings from the Simons Simplex Collection (SSC) and MSSNG database, as well as 7509 individuals from two unselected populations (IMAGEN and Generation Scotland). Sleep duration and insomnia symptoms were parent reported for SSC probands. We identified 335 and 616 rare CNVs encompassing circadian and insomnia risk genes respectively. Deletions and duplications with circadian genes were overrepresented in ASD probands compared to siblings and unselected controls. For insomnia-risk genes, deletions (not duplications) were associated with ASD in both cohorts. Results remained significant after adjusting for cognitive ability. CNVs containing circadian pathway and insomnia risk genes showed a stronger association with ASD, compared to CNVs containing other genes. Circadian genes did not influence sleep duration or insomnia traits in ASD. Insomnia risk genes intolerant to haploinsufficiency increased risk for insomnia when duplicated. CNVs encompassing circadian and insomnia risk genes increase ASD liability with little to no observable impacts on sleep disturbances.

AB - Sleep disturbance is prevalent in youth with Autism Spectrum Disorder (ASD). Researchers have posited that circadian dysfunction may contribute to sleep problems or exacerbate ASD symptomatology. However, there is limited genetic evidence of this. It is also unclear how insomnia risk genes identified through GWAS in general populations are related to ASD and common sleep problems like insomnia traits in ASD. We investigated the contribution of copy number variants (CNVs) encompassing circadian pathway genes and insomnia risk genes to ASD risk as well as sleep disturbances in children with ASD. We studied 5860 ASD probands and 2092 unaffected siblings from the Simons Simplex Collection (SSC) and MSSNG database, as well as 7509 individuals from two unselected populations (IMAGEN and Generation Scotland). Sleep duration and insomnia symptoms were parent reported for SSC probands. We identified 335 and 616 rare CNVs encompassing circadian and insomnia risk genes respectively. Deletions and duplications with circadian genes were overrepresented in ASD probands compared to siblings and unselected controls. For insomnia-risk genes, deletions (not duplications) were associated with ASD in both cohorts. Results remained significant after adjusting for cognitive ability. CNVs containing circadian pathway and insomnia risk genes showed a stronger association with ASD, compared to CNVs containing other genes. Circadian genes did not influence sleep duration or insomnia traits in ASD. Insomnia risk genes intolerant to haploinsufficiency increased risk for insomnia when duplicated. CNVs encompassing circadian and insomnia risk genes increase ASD liability with little to no observable impacts on sleep disturbances.

KW - Adolescent

KW - Autism Spectrum Disorder/complications

KW - Autistic Disorder

KW - Child

KW - Humans

KW - Sleep

KW - Sleep Initiation and Maintenance Disorders/complications

KW - Sleep Wake Disorders

U2 - 10.1038/s41398-022-02188-2

DO - 10.1038/s41398-022-02188-2

M3 - SCORING: Journal article

C2 - 36192372

VL - 12

JO - TRANSL PSYCHIAT

JF - TRANSL PSYCHIAT

SN - 2158-3188

IS - 1

M1 - 424

ER -