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

Citation:

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.

Abstract:

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.