Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

Hassan S. Dashti, Samuel E. Jones, Andrew R. Wood, Jacqueline M. Lane, Vincent T. Van Hees, Heming Wang, Jessica A. Rhodes, Yanwei Song, Krunal Patel, Simon G. Anderson, Robin N. Beaumont, David A. Bechtold, Jack Bowden, Brian E. Cade, Marta Garaulet, Simon D. Kyle, Max A. Little, Andrew S. Loudon, Annemarie I. Luik, Frank A. J. L. ScheerKai Spiegelhalder, Jessica Tyrrell, Daniel J. Gottlieb, Henning Tiemeier, David W. Ray, Shaun M. Purcell, Timothy M. Frayling, Susan Redline, Deborah A. Lawlor, Martin K. Rutter, Michael N. Weedon, Richa Saxena

    Research output: Contribution to journalArticlepeer-review


    Sleep is an essential state of decreased activity and alertness but molecular factors regulating sleep duration remain unknown. Through genome-wide association analysis in 446,118 adults of European ancestry from the UK Biobank, we identify 78 loci for self-reported habitual sleep duration (p < 5 × 10−8; 43 loci at p < 6 × 10−9). Replication is observed for PAX8, VRK2, and FBXL12/UBL5/PIN1 loci in the CHARGE study (n = 47,180; p < 6.3 × 10−4), and 55 signals show sign-concordant effects. The 78 loci further associate with accelerometer-derived sleep duration, daytime inactivity, sleep efficiency and number of sleep bouts in secondary analysis (n = 85,499). Loci are enriched for pathways including striatum and subpallium development, mechanosensory response, dopamine binding, synaptic neurotransmission and plasticity, among others. Genetic correlation indicates shared links with anthropometric, cognitive, metabolic, and psychiatric traits and two-sample Mendelian randomization highlights a bidirectional causal link with schizophrenia. This work provides insights into the genetic basis for inter-individual variation in sleep duration implicating multiple biological pathways.
    Original languageEnglish
    Article number1100
    JournalNature Communications
    Issue number1
    Publication statusPublished - 7 Mar 2019

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    • Accelerometry
    • Adult
    • Aged
    • European Continental Ancestry Group
    • Female
    • Genetic Loci
    • Genome-Wide Association Study
    • Humans
    • Linkage Disequilibrium
    • Male
    • Middle Aged
    • Polymorphism, Single Nucleotide
    • Schizophrenia/genetics
    • Self Report
    • Sleep/genetics
    • United Kingdom


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