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Nat Commun. 2019 Apr 5;10(1):1585. doi: 10.1038/s41467-019-09576-1.

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

Author information

1
Genetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, EX2 5DW, UK.
2
Netherlands eScience Center, Amsterdam, 1098 XG, The Netherlands.
3
Center for Sleep and Circadian Neurobiology, University of Pennsylvania, Philadelphia, 19104, PA, USA.
4
Perelman School of Medicine of the University of Pennsylvania, Philadelphia, 19104, PA, USA.
5
Department of Medicine, Internal Medicine, Lausanne University Hospital, Lausanne, 1011, Switzerland.
6
Research Department of Epidemiology and Public Health, University College London, London, WC1E 6BT, UK.
7
INSERM, U1153, Epidemiology of Ageing and Neurodegenerative diseases, Université de Paris, Paris, 75010, France.
8
Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, 3000 CA, The Netherlands.
9
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
10
Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
11
UCL Institute of Cardiovascular Science, Research department of Population Science and Experimental Medicine, Centre for Translational Genomics, 222 Euston Road, London, NW1 2DA, UK.
12
Department of Child and Adolescent Psychiatry, Erasmus Medical Center, Rotterdam, 3000 CA, The Netherlands.
13
Sport and Health Sciences, College of Life and Environmental Sciences, University of Exeter, Exeter, EX1 2LU, UK.
14
Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02111, USA.
15
Departments of Medicine, Brigham and Women's Hospital and Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, 02115, USA.
16
Division of Diabetes, Endocrinology and Gastroenterology, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, M13 9PL, UK.
17
Manchester Diabetes Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Oxford Road, 193 Hathersage Road, Manchester, M13 0JE, UK.
18
Department of Social and Behavioral Science, Harvard TH Chan School of Public Health, Boston, MA, 02115, USA.
19
Institute of Social and Preventive Medicine (IUMSP), Lausanne University Hospital, Lausanne, 1010, Switzerland.
20
Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.
21
ISER, University of Essex, Colchester, Essex, CO4 3SQ, UK.
22
Genetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, EX2 5DW, UK. m.n.weedon@exeter.ac.uk.
23
Genetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, EX2 5DW, UK. a.r.wood@exeter.ac.uk.

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 × 10-8, of which 20 reach a stricter threshold of P < 8 × 10-10. 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.

PMID:
30952852
PMCID:
PMC6451011
DOI:
10.1038/s41467-019-09576-1
[Indexed for MEDLINE]
Free PMC Article

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