Exome sequencing identifies genes associated with sleep-related traits

Chen-Jie Fei, Ze-Yu Li, Jing Ning, Liu Yang, Bang-Sheng Wu, Ju-Jiao Kang, Wei-Shi Liu, Xiao-Yu He, Jia You, Shi-Dong Chen, Huan Yu, Zhi-Li Huang, Jian-Feng Feng, Jin-Tai Yu () and Wei Cheng ()
Additional contact information
Chen-Jie Fei: Fudan University
Ze-Yu Li: Fudan University
Jing Ning: Fudan University
Liu Yang: Fudan University
Bang-Sheng Wu: Fudan University
Ju-Jiao Kang: Fudan University
Wei-Shi Liu: Fudan University
Xiao-Yu He: Fudan University
Jia You: Fudan University
Shi-Dong Chen: Fudan University
Huan Yu: Fudan University
Zhi-Li Huang: Fudan University
Jian-Feng Feng: Fudan University
Jin-Tai Yu: Fudan University
Wei Cheng: Fudan University

Nature Human Behaviour, 2024, vol. 8, issue 3, 576-589

Abstract: Abstract Sleep is vital for human health and has a moderate heritability. Previous genome-wide association studies have limitations in capturing the role of rare genetic variants in sleep-related traits. Here we conducted a large-scale exome-wide association study of eight sleep-related traits (sleep duration, insomnia symptoms, chronotype, daytime sleepiness, daytime napping, ease of getting up in the morning, snoring and sleep apnoea) among 450,000 participants from UK Biobank. We identified 22 new genes associated with chronotype (ADGRL4, COL6A3, CLK4 and KRTAP3-3), daytime sleepiness (ST3GAL1 and ANKRD12), daytime napping (PLEKHM1, ANKRD12 and ZBTB21), snoring (WDR59) and sleep apnoea (13 genes). Notably, 20 of these genes were confirmed to be significantly associated with sleep disorders in the FinnGen cohort. Enrichment analysis revealed that these discovered genes were enriched in circadian rhythm and central nervous system neurons. Phenotypic association analysis showed that ANKRD12 was associated with cognition and inflammatory traits. Our results demonstrate the value of large-scale whole-exome analysis in understanding the genetic architecture of sleep-related traits and potential biological mechanisms.

Date: 2024
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DOI: 10.1038/s41562-023-01785-5

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