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<p>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 &lt; 2e<sup>−16</sup>), 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>

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The interplay between genomic copy number variants, sleep, and cognition in the general population

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月6日

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  • Cecile Poulain,
  • Rackeb Tesfaye,
  • Elise Douard,
  • Jean-Louis Martineau,
  • Zohra Saci,
  • Aurelie Labbe,
  • David C. Glahn,
  • Laura Almasy,
  • Mayada Elsabbagh,
  • Guillaume Huguet,
  • Sebastien Jacquemont

摘要

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.