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Updated: Jun 27, 2025

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The Genetics of Human Sleep and Sleep Disorders
Xianlin Zou1, Louis J Ptáček1,2,3,4, Ying-Hui Fu4,1,2,3
1Department of Neurology, University of California, San Francisco, California, USA; email: xianlin.zou@ucsf.edu, ljp@ucsf.edu, ying-hui.fu@ucsf.edu.
Abstract:
Healthy sleep is vital for humans to achieve optimal health and longevity. Poor sleep and sleep disorders are strongly associated with increased morbidity and mortality. However, the importance of good sleep continues to be underrecognized. Mechanisms regulating sleep and its functions in humans remain mostly unclear even after decades of dedicated research. Advancements in gene sequencing techniques and computational methodologies have paved the way for various genetic analysis approaches, which have provided some insights into human sleep genetics. This review summarizes our current knowledge of the genetic basis underlying human sleep traits and sleep disorders. We also highlight the use of animal models to validate genetic findings from human sleep studies and discuss potential molecular mechanisms and signaling pathways involved in the regulation of human sleep.
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