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Updated: May 31, 2025

Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
Published on: April 26, 2024
Genome-wide association analysis of composite sleep health scores in 413,904 individuals
Matthew O Goodman1,2,3, Tariq Faquih1,2,3, Valentina Paz4,5,6
1Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Abstract:
Recent genome-wide association studies (GWASs) of several individual sleep traits have identified hundreds of genetic loci, suggesting diverse mechanisms. Moreover, sleep traits are moderately correlated, so together may provide a more complete picture of sleep health, while illuminating distinct domains. Here we construct novel sleep health scores (SHSs) incorporating five core self-report measures: sleep duration, insomnia symptoms, chronotype, snoring, and daytime sleepiness, using additive (SHS-ADD) and five principal components-based (SHS-PCs) approaches. GWASs of these six SHSs identify 28 significant novel loci adjusting for multiple testing on six traits (p < 8.3e-9), along with 341 previously reported loci (p < 5e-08). The heritability of the first three SHS-PCs equals or exceeds that of SHS-ADD (SNP-h2 = 0.094), while revealing sleep-domain-specific genetic discoveries. Significant loci enrich in multiple brain tissues and in metabolic and neuronal pathways. Post-GWAS analyses uncover novel genetic mechanisms underlying sleep health and reveal connections (including potential causal links) to behavioral, psychological, and cardiometabolic traits.
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