Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour
journal contribution
posted on 2024-07-25, 15:36 authored by S.E. Jones, V.T. van, D.R. Mazzotti, P. Marques-Vidal, S. Sabia, A. van, H.S. Dashti, J. Engmann, D. Kocevska, J. Tyrrell, R.N. Beaumont, M. Hillsdon, K.S. Ruth, M.A. Tuke, Hanieh Yaghootkar, S.A. Sharp, Y. Ji, J.W. Harrison, R.M. Freathy, A. Murray, A.I. Luik, N. Amin, J.M. Lane, R. Saxena, M.K. Rutter, H. Tiemeier, Z. Kutalik, M. Kumari, T.M. Frayling, M.N. Weedon, P.R. Gehrman, A.R. Wood<p> 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. © 2019, The Author(s).</p>
History
School affiliated with
- School of Chemistry (Research Outputs)
Publication Title
Nature CommunicationsVolume
10Issue
1Publisher
Nature Publishing GroupExternal DOI
ISSN
20411723Date Accepted
2019-03-14Usage metrics
Keywords
AccelerometryCircadian RhythmHumansPolymorphism Single NucleotidePolysomnographySerotoninSleepSleep Wake DisordersWaist-Hip RatioUnited Kingdomserotonintranscription factor PAX8accelerometerbehavioral responsegene expressiongenetic analysismodel validationnocturnal activityphysiological responsesleepaccelerometryadultalleleAlzheimer diseaseArticlebody massdepressionfemalegene locusgene replicationgenetic associationgenetic variationgeneticsgenomegenome-wide association studygenotypehumaninsomnialifestylemaleMendelian randomization analysisphylogenyphysical inactivityprincipal component analysisrestless legs syndromeself reportsensitivity analysissingle nucleotide polymorphismsleep disordersleep patternsleep qualitysleep timesomnolencewaist hip ratiowakefulnesscircadian rhythmmetabolismpolysomnographyprocedures
Licence
Exports
RefWorksRefWorks
BibTeXBibTeX
Ref. managerRef. manager
EndnoteEndnote
DataCiteDataCite
NLMNLM
DCDC

