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Genetic architecture of sleep in a genome wide association study of device measured sleep traits.

Overview

Authors: Laura Portas1,2, Hang Yuan1,2, Lina Cai3, Karl Smith-Byrne4, Stefan van Duijvenboden1,2, Simon D. Kyle5, David Ray6,7,8, Joanna MM Howson3, Aiden Doherty1,2
ORCID iDs: Laura Portas, Hang Yuan, Karl Smith-Byrne, David Ray, Joanna MM Howson
  1. Big Data Institute, University of Oxford,Oxford, UK
  2. Nuffield Department of Population Health, University of Oxford,Oxford, UK
  3. Human Genetics Centre of Excellence, Novo Nordisk Research Centre,Oxford, UK
  4. Cancer Epidemiology Unit, University of Oxford,Oxford, UK
  5. Sir Jules Thorn Sleep and Circadian Neuroscience Institute, Nuffield Department of Clinical Neurosciences, University of Oxford,Oxford, UK
  6. NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital,Oxford, UK
  7. Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford,Oxford, UK
  8. Oxford Kavli Centre for Nanoscience Discovery, University of Oxford,Oxford, UK
Institutions: University of Oxford (United Kingdom); Human Genetics Centre of Excellence, Novo Nordisk Research Centre,Oxford, UK; John Radcliffe Hospital (United Kingdom)
Journal: Nature communications, volume 17, issue 1, article 4715
Dates: received 22 September 2025; accepted 16 March 2026; published online 1 April 2026
Type: Research article · Language: English
License: CC BY
Identifiers: DOI 10.1038/s41467-026-71252-y · PMID 41922918 · PMCID PMC13212655 · OpenAlex W7146956843
Open access: gold, a free copy (OpenAlex)
Status: code on request
Categories: genetics / omics (modality), human (organism)
Methods: Statistics, Smoothing, state filtering, decompositions, Machine learning
Keywords: Risk factors, Health care, Medical research
MeSH: Genome-Wide Association Study*, Sleep*, Aged, Female, Humans, Male, Middle Aged, Myeloid Ecotropic Viral Integration Site 1 Protein, Polymorphism, Single Nucleotide, Sleep Duration, Sleep, REM, Sleep, Slow-Wave (* major topic)
Topic: Sleep and Wakefulness Research (Cognitive Neuroscience, Neuroscience), according to OpenAlex
Funding: Novo Nordisk Research Centre Oxford (NNRCO)
Citations: not cited yet (Europe PMC); 52 references in the paper

Abstract

Sleep is essential for health and regulated by genetic and environmental factors. We perform genome-wide association studies of device-measured sleep duration, efficiency, and accelerometer-derived rapid eye movement (REM) and non-rapid eye movement (NREM) sleep in 80,013 UK Biobank participants. We identify 20 autosomal loci, 12 of which have not been previously reported, including genome-wide significant associations for REM and NREM sleep duration. MEIS1 shows strong opposing effects on REM and NREM durations and is intolerant to loss-of-function mutations, suggesting an essential role in the regulation of REM/NREM sleep balance. Functional enrichment analysis identifies statistically significant pathways related to chromatin remodelling, lipid metabolism, and metal ion homeostasis while tissue enrichment analysis highlights significant signals in the hypothalamus and frontal cortex. Sex-stratified analyses identify distinct loci, including FOXP2 and NRXN3 in females and LRP1B, NPBWR2, and PABPC4 in males. Mendelian randomization supports associations between shorter sleep duration and higher cardiometabolic risk. These findings highlight sex- and phase-specific regulators of human sleep architecture, providing biological insights and potential therapeutic targets.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

The paper says that its authors' code is available on request: it was not published with the paper, so there is nothing to verify.

Code availability

No novel methodological code was developed for this study. All analyses were conducted using publicly available software tools and relevant parameters are described in the Methods section. Analysis scripts used to run standard software pipelines are available from the corresponding author upon reasonable request.

Reproduced under the paper's license (CC BY), from the paper cited above.

Tracing map

A tracing map links a paper to the code its authors published: this paper has none (its code is available on request), so it has no map.

Data

Datasets cited

Data availability

This research was conducted using the UK Biobank resource (application number 59070). Individual-level UK Biobank data analysed in this study are subject to access restrictions in accordance with UK Biobank data governance policies and participant consent and cannot be made publicly available. Individual-level data are available to bona fide researchers upon application to UK Biobank (https://www.ukbiobank.ac.uk/enable-your-research/apply-for-access), subject to approval by the UK Biobank Access Management Team and execution of a data access agreement.

The GWAS summary statistics generated in this study have been deposited in the GWAS Catalog under accession numbers GCST90824104, GCST90824105, GCST90824106, and GCST90824107 (GCP001581). These summary statistics will be made publicly available upon publication and will be accessible via the GWAS Catalog (https://www.ebi.ac.uk/gwas/).

Brain-specific eQTL datasets including PsychENCODE, CMC, BrainSeq and BRAINEAC were accessed via the FUMA GWAS platform (https://fuma.ctglab.nl/), which integrates publicly available functional annotation resources. GTEx v8 data were obtained from the GTEx Portal (https://gtexportal.org/). LD scores and weights were downloaded from the LDSC repository (https://data.broadinstitute.org/alkesgroup/LDSCORE/). These resources are publicly available according to the terms specified by their respective repositories. The sources of GWAS summary statistics used for Mendelian randomisation analyses, including PMIDs and references to the original studies, are described in Supplementary Data 17. All other data supporting the findings of this study are available within the Article and its Supplementary Information files.

Reproduced under the paper's license (CC BY), from the paper cited above.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 9 authors, 3 keywords, 12 MeSH terms, 1 funder, 50 references.

Cite

This paper

Portas, L., Yuan, H., Cai, L., Smith-Byrne, K., van Duijvenboden, S., Kyle, S. D., Ray, D., Howson, J. M., & Doherty, A. (2026). Genetic architecture of sleep in a genome wide association study of device measured sleep traits. Nature communications, 17(1), 4715. https://doi.org/10.1038/s41467-026-71252-y

BibTeX

@article{portas2026genetic,
author = {Portas, Laura and Yuan, Hang and Cai, Lina and Smith-Byrne, Karl and van Duijvenboden, Stefan and Kyle, Simon D. and Ray, David and Howson, Joanna MM and Doherty, Aiden},
title = {{Genetic architecture of sleep in a genome wide association study of device measured sleep traits}},
journal = {Nature communications},
year = {2026},
month = apr,
volume = {17},
number = {1},
pages = {4715},
publisher = {Nature Publishing Group},
issn = {2041-1723},
doi = {10.1038/s41467-026-71252-y},
url = {https://doi.org/10.1038/s41467-026-71252-y},
pmid = {41922918},
pmcid = {PMC13212655}
}

RIS

TY - JOUR
AU - Portas, Laura
AU - Yuan, Hang
AU - Cai, Lina
AU - Smith-Byrne, Karl
AU - van Duijvenboden, Stefan
AU - Kyle, Simon D.
AU - Ray, David
AU - Howson, Joanna MM
AU - Doherty, Aiden
TI - Genetic architecture of sleep in a genome wide association study of device measured sleep traits
T2 - Nature communications
J2 - Nat Commun
PY - 2026
DA - 2026/04/01
VL - 17
IS - 1
SP - 4715
SN - 2041-1723
PB - Nature Publishing Group
DO - 10.1038/s41467-026-71252-y
UR - https://doi.org/10.1038/s41467-026-71252-y
LA - en
ER -

CSL-JSON

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