4.8 Article

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

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NATURE COMMUNICATIONS
卷 10, 期 -, 页码 -

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NATURE PORTFOLIO
DOI: 10.1038/s41467-019-09576-1

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资金

  1. Medical Research Council [MR/M005070/1, 9072, 16434]
  2. EC Horizon2020 [MR/M005070/1, LIFEPATH 633666]
  3. Diabetes Research and Wellness Foundation Fellowship [LIFEPATH 633666]
  4. Wellcome Trust Institutional Strategic Support Award [WT097835MF]
  5. European Research Council
  6. Diabetes UK RD Lawrence fellowship [SZ-245 50371-GLUCOSEGENES-FP7-IDEAS-ERC, 323195]
  7. Wellcome Trust [17/0005594]
  8. Royal Society [104150/Z/14/Z.K.S.R.]
  9. Gillings Family Foundation - NIH
  10. Erasmus MC, Rotterdam, The Netherlands [1R01HL143790-01]
  11. Netherlands Organisation of Scientific Research NWO Investments [175.010.2005.011, 911-03-012]
  12. Genetic Laboratory of the Department of Internal Medicine, Erasmus MC
  13. Research Institute for Diseases in the Elderly [014-93-015]
  14. Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO) Netherlands Consortium for Healthy Aging (NCHA)
  15. Erasmus Medical Centre [050-060-810]
  16. Netherlands Organisation for the Health Research and Development (ZonMw)
  17. Research Institute for Diseases in the Elderly (RIDE)
  18. Ministry of Education, Culture and Science
  19. Ministry for Health, Welfare and Sports, the European Commission (DG XII)
  20. Municipality of Rotterdam [MEC 02.1015]
  21. Dutch Ministry of Health, Welfare and Sport
  22. GlaxoSmithKline [1071272-159521-PG, NTR6831]
  23. Faculty of Biology and Medicine of Lausanne
  24. Swiss National Science Foundation [33CSCO-122661, 33CS30-139468, 33CS30-148401]
  25. Ethics Commission of Canton Vaud
  26. US National Institutes on Aging [16/03, 33/09, 26/14, PB_2018-00040]
  27. UK Medical Research Council [R01AG013196, R01AG034454]
  28. British Heart Foundation [MRC K013351, MR/R024227/1]
  29. University College London Hospital Committee on the Ethics of Human Research [RG/13/2/30098]
  30. [85/0938]
  31. MRC [MR/S011676/1, MR/R024227/1, MR/M005070/1, MR/P012167/1] Funding Source: UKRI

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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 x 10(-8), of which 20 reach a stricter threshold of P < 8 x 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.

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