| Title: | The interplay between genomic copy number variants, sleep, and cognition in the general population |
| Journal: | Translational Psychiatry |
| Published: | 6 Oct 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/41053002/ |
| DOI: | https://doi.org/10.1038/s41398-025-03579-x |
| URL: | https://www.nature.com/articles/s41398-025-03579-x.pdf |
Publication 19275
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Abstract
Genomic Copy Number variants (CNVs) increase risk for neurodevelopmental disorders (NDDs) and affect cognition, but their impact on sleep remains understudied despite the well-established link between sleep disturbances, NDDs, and cognition. We investigated the relationship between CNVs, sleep traits, cognitive ability, and executive function in 498,852 individuals from an unselected population in the UK Biobank. We replicated the U-shape relationship between measures of cognitive ability and sleep duration. The effects of CNVs on sleep duration were evident at the genome-wide level; CNV-burden analyses showed that overall, CNVs with an increasing number of intolerant genes were associated with increased or decreased sleep duration in a U-shape pattern (p < 2e−16), but did not increase risk of insomnia. Sleep duration only marginally mediated the robust association between CNVs and poorer cognitive performance, suggesting that sleep and cognitive phenotypes may result from pleiotropic effects of CNVs with minimal causal relationship.</p>
14 Keywords
- Adult
- Aged
- Cognition
- DNA Copy Number Variations
- Executive Function
- Female
- Genome-Wide Association Study
- Humans
- Male
- Middle Aged
- Sleep
- Sleep Initiation and Maintenance Disorders
- Sleep Wake Disorders
- United Kingdom
11 Authors
- Cecile Poulain
- Rackeb Tesfaye
- Elise Douard
- Jean-Louis Martineau
- Zohra Saci
- Aurelie Labbe
- David C. Glahn
- Laura Almasy
- Mayada Elsabbagh
- Guillaume Huguet
- Sebastien Jacquemont
1 Application
| Application ID | Title |
|---|---|
| 40980 | Rare deleterious CNVs share some overlapping effects on brain structure. |
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