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

TitleGenetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.
Publication TypeJournal Article
Year of Publication2019
AuthorsJones, SE, van Hees, VT, Mazzotti, DR, Marques-Vidal, P, Sabia, S, van der Spek, A, Dashti, HS, Engmann, J, Kocevska, D, Tyrrell, J, Beaumont, RN, Hillsdon, M, Ruth, KS, Tuke, MA, Yaghootkar, H, Sharp, SA, Ji, Y, Harrison, JW, Freathy, RM, Murray, A, Luik, AI, Amin, N, Lane, JM, Saxena, R, Rutter, MK, Tiemeier, H, Kutalik, Z, Kumari, M, Frayling, TM, Weedon, MN, Gehrman, PR, Wood, AR
JournalNature communications
Date Published04/2019
KeywordsAccelerometry/methods, Circadian Rhythm, Humans, Polymorphism, Single Nucleotide, Polysomnography/methods, Serotonin/genetics, Serotonin/metabolism, Sleep Wake Disorders/diagnosis, Sleep Wake Disorders/genetics, Sleep/genetics, Waist-Hip Ratio

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.

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Alternate JournalNat Commun
Citation Key / SERVAL ID9563
Peer reviewRefereed
PubMed ID30952852
PubMed Central IDPMC6451011
Grant ListR01 HL143790 / HL / NHLBI NIH HHS / United States
R01 AG034454 / AG / NIA NIH HHS / United States
R01 DK107859 / DK / NIDDK NIH HHS / United States
R01 AG013196 / AG / NIA NIH HHS / United States
/ / Wellcome Trust / United Kingdom


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