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

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


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Accelerometry / methods
  • Circadian Rhythm
  • Humans
  • Polymorphism, Single Nucleotide
  • Polysomnography / methods*
  • Serotonin / genetics
  • Serotonin / metabolism
  • Sleep / genetics*
  • Sleep Wake Disorders / diagnosis
  • Sleep Wake Disorders / genetics*
  • Waist-Hip Ratio


  • Serotonin