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Genetics of circadian rhythms and sleep in human health and disease
Open accessAbstract
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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“Disruption of this system is a common comorbidity in ASD and is implicated in exacerbating sleep disturbances, behavioral rhythm abnormalities, and emotional dysregulation, potentially by dysregulating the temporal coordination of neuronal and synaptic processes”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Lane et al., 2023
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Metadata
- 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
- Venue
- Nature Reviews Genetics
- Published
- 2022-08-26
- Volume
- 24
- Issue
- 1
- Pages
- 4-20
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- 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
- 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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