Cited by 238Circadian rhythm and melatoninSleep and related disordersSleep and Wakefulness Research

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Genetics of circadian rhythms and sleep in human health and disease

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Lane, Jacqueline M., Qian, Jingyi, Mignot, Emmanuel, Redline, Susan, Scheer, Frank A. J. L., Saxena, Richa·2023·Nature Reviews Genetics

DOI 10.1038/s41576-022-00519-zPMC PMC10947799

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Abstract

Circadian rhythms and sleep are fundamental biological processes integral to human health. Their disruption is associated with detrimental physiological consequences, including cognitive, metabolic, cardiovascular and immunological dysfunctions. Yet many of the molecular underpinnings of sleep regulation in health and disease have remained elusive. Given the moderate heritability of circadian and sleep traits, genetics offers an opportunity that complements insights from model organism studies to advance our fundamental molecular understanding of human circadian and sleep physiology and linked chronic disease biology. Here, we review recent discoveries of the genetics of circadian and sleep physiology and disorders with a focus on those that reveal causal contributions to complex diseases.

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Authors: Lane, J. M., Qian, J., Mignot, E., Redline, S., Scheer, F. A. J. L., & Saxena, R.
Affiliations: Broad Institute (US)
Brigham and Women's Hospital (US)
Stanford University (US)
Corresponding author: Scheer, Frank A. J. L.
Saxena, Richa
ORCID: Lane, Jacqueline M.
Qian, Jingyi
Mignot, Emmanuel
Redline, Susan
Scheer, Frank A. J. L.
Saxena, Richa
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2022-08-26
Volume: 24
Issue: 1
Pages: 4-20
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/s41576-022-00519-z
PMC: PMC10947799
OpenAlex: W4293181831
Cited by: 236
References: 200
Citations by year: 2026: 59 · 2025: 73 · 2024: 59 · 2023: 39 · 2022: 6
FWCI: 6.38
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: cc-by
www.springernature.com/gp/researchers/text-and-data-mining (tdm)
www.springernature.com/gp/researchers/text-and-data-mining (vor)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion, cc-by)
Funders: U.S. Department of Defense (W81XWH2010776)
National Institutes of Health
National Institute on Aging (R21AG068890)
National Heart, Lung, and Blood Institute (R01HL140574, R35HL135818, K99HL148500, K01HL136884, R01HL146751, R01HL153969)
National Institute of Diabetes and Digestive and Kidney Diseases (R01DK105072, R01DK102696, R01DK107859)
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and related disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Keywords: circadian rhythm, sleep, clock genes, sleep disorders, heritability, complex diseases, sleep regulation, circadian rhythm disruption, cardiovascular disease, metabolic disorders, cognitive impairment, immune dysfunction
MeSH terms: Circadian Rhythm, Humans, Phenotype, Sleep

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Genetics of circadian rhythms and sleep in human health and disease

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