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Updated: Aug 6, 2026
10:16
Human Circadian Phenotyping and Diurnal Performance Testing in the Real World
Published on: April 7, 2020
Using Polygenic Risk Scores to Evaluate Definitions of Self-Reported Sleep Phenotypes Across Cohorts
Annah B Wyss1,2, Michael Brown3, Xiang Li4
1CardioVascular Institute, Beth Israel Deaconess Medical Center, Boston, MA, United States.
Sleep
|July 21, 2026
Summary
Polygenic risk scores (PRSs) derived from European ancestry GWAS effectively predict sleep phenotypes like short sleep, long sleep, insomnia, and excessive daytime sleepiness (EDS) across diverse populations. Multi-ancestry PRSs showed weaker associations, indicating the importance of ancestry in genetic prediction models.
Area of Science:
- Genetics
- Sleep Medicine
- Population Health
Background:
- Genome-wide association studies (GWAS) for sleep phenotypes have yielded varied results due to population differences and inconsistent phenotype definitions.
- Polygenic risk scores (PRSs) offer a way to aggregate genetic variants for complex traits, but their performance across diverse ancestries needs evaluation.
Purpose of the Study:
- To investigate the associations between various sleep-related polygenic risk scores (PRSs) and multiple definitions of sleep phenotypes.
- To assess the performance of PRSs derived from European-ancestry and multi-ancestry GWAS in multiethnic cohorts.
Main Methods:
- Utilized data from four large cohorts (N=16,895) including diverse populations.
- Developed PRSs using GWAS summary statistics from European ancestry (UK Biobank) and multi-ancestry (Million Veteran Program) datasets.
- Examined associations between PRSs and definitions of short sleep, long sleep, insomnia, and excessive daytime sleepiness (EDS), meta-analyzing results across studies.
Main Results:
- PRSs based on European ancestry GWAS demonstrated statistically significant associations with multiple sleep phenotypes.
- Consistent associations were observed for short sleep (≤6 hours), long sleep (≥9 hours), insomnia (WHIIRS ≥10), and EDS (ESS ≥11).
- PRSs derived from multi-ancestry GWAS showed weaker predictive power compared to European-ancestry based PRSs.
Conclusions:
- This study highlights the utility of sleep PRSs, particularly those derived from European ancestry GWAS, in predicting various sleep phenotypes across diverse populations.
- The findings underscore the importance of considering ancestry in PRS development and suggest specific sleep definitions that better capture genetic influences.
- Evaluating different PRSs and sleep phenotypes is crucial for understanding genetic underpinnings of sleep traits in multiethnic groups.
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