Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour


Samuel E Jones, Vincent T van Hees, Diego R Mazzotti, Pedro Marques-Vidal, Séverine Sabia, Ashley van der Spek, Hassan S Dashti, Jorgen Engmann, Desana Kocevska, Jessica Tyrrell, Robin N Beaumont, Melvyn Hillsdon, Katherine S Ruth, Marcus A Tuke, Hanieh Yaghootkar, Seth A Sharp, Yingjie Ji, Jamie W Harrison, Rachel M Freathy, Anna Murray, Annemarie I Luik, Najaf Amin, Jacqueline M Lane, Richa Saxena, Martin K Rutter, Henning Tiemeier, Zoltán Kutalik, Meena Kumari, Timothy M Frayling, Michael N Weedon, Philip R Gehrman, and Andrew R Wood. 2019. “Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.” Nat Commun, 10, 1, Pp. 1585.


Sleep is an essential human function but its regulation is poorly understood. Using accelerometer data from 85,670 UK Biobank participants, we perform a genome-wide association study of 8 derived sleep traits representing sleep quality, quantity and timing, and validate our findings in 5,819 individuals. We identify 47 genetic associations at P < 5 × 10, of which 20 reach a stricter threshold of P < 8 × 10. These include 26 novel associations with measures of sleep quality and 10 with nocturnal sleep duration. The majority of identified variants associate with a single sleep trait, except for variants previously associated with restless legs syndrome. For sleep duration we identify a missense variant (p.Tyr727Cys) in PDE11A as the likely causal variant. As a group, sleep quality loci are enriched for serotonin processing genes. Although accelerometer-derived measures of sleep are imperfect and may be affected by restless legs syndrome, these findings provide new biological insights into sleep compared to previous efforts based on self-report sleep measures.