Perkiö Anna, Merikanto Ilona, Kantojärvi Katri, Paunio Tiina, Sinnott-Armstrong Nasa, Jones Samuel E, Ollila Hanna M
Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, 00290 Helsinki, Finland.
SleepWell Research Program, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland.
Clocks Sleep. 2022 Dec 30;5(1):10-20. doi: 10.3390/clockssleep5010002.
Polygenic risk scores (PRSs) estimate genetic liability for diseases and traits. However, the portability of PRSs in sleep traits has remained elusive. We generated PRSs for self-reported insomnia, chronotype and sleep duration using summary data from genome-wide association studies (GWASs) performed in 350,000 to 697,000 European-ancestry individuals. We then projected the scores in two independent Finnish population cohorts (N = 33,493) and tested whether the PRSs were associated with their respective sleep traits. We observed that all the generated PRSs were associated with their corresponding traits (p < 0.05 in all cases). Furthermore, we found that there was a 22.2 min difference in reported sleep between the 5% tails of the PRS for sleep duration (p < 0.001). Our findings indicate that sleep-related PRSs show portability across cohorts. The findings also demonstrate that sleep measures using PRSs for sleep behaviors may provide useful instruments for testing disease and trait associations in cohorts where direct sleep parameters have not yet been measured.
多基因风险评分（PRSs）用于估计疾病和性状的遗传易感性。然而，PRSs在睡眠性状方面的可转移性仍不明确。我们利用在350,000至697,000名欧洲血统个体中进行的全基因组关联研究（GWASs）的汇总数据，生成了自我报告失眠、昼夜节律类型和睡眠时间的PRSs。然后，我们将这些评分应用于两个独立的芬兰人群队列（N = 33,493），并测试PRSs是否与其各自的睡眠性状相关。我们观察到，所有生成的PRSs均与其相应性状相关（所有情况下p < 0.05）。此外，我们发现，睡眠时间的PRS的5%尾部之间报告的睡眠时间存在22.2分钟的差异（p < 0.001）。我们的研究结果表明，与睡眠相关的PRSs在不同队列中具有可转移性。这些结果还表明，使用PRSs进行睡眠行为的测量可能为在尚未测量直接睡眠参数的队列中测试疾病和性状关联提供有用的工具。
