Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters

Von Schantz, Malcolm

doi:10.1007/s12041-008-0074-7

Cited by 85Circadian rhythm and melatoninSleep and Wakefulness ResearchSleep and related disorders

Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters

Von Schantz, Malcolm·2008·Journal of Genetics

DOI 10.1007/s12041-008-0074-7

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Abstract

Circadian rhythms and sleep are two separate but intimately related processes. Circadian rhythms are generated through the precisely controlled, cyclic expression of a number of genes designated clock genes. Genetic variability in these genes has been associated with a number of phenotypic differences in circadian as well as sleep parameters, both in mouse models and in humans. Diurnal preferences as determined by the selfreported Horne-Ostberg (HO) questionnaire, has been associated with polymorphisms in the human genes CLOCK, PER1, PER2 and PER3. Circadian rhythm-related sleep disorders have also been associated with mutations and polymorphisms in clock genes, with the advanced type cosegrating in an autosomal dominant inheritance pattern with mutations in the genes PER2 and CSNK1D, and the delayed type associating without discernible Mendelian inheritance with polymorphisms in CLOCK and PER3. Several mouse models of clock gene null alleles have been demonstrated to have affected sleep homeostasis. Recent findings have shown that the variable number tandem polymorphism in PER3, previously linked to diurnal preference, has profound effects on sleep homeostasis and cognitive performance following sleep loss, confirming the close association between the processes of circadian rhythms and sleep at the genetic level.

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Rare cases of familial extreme chronotype disorders, such as advanced sleep-phase syndrome, have been described.
“Concerning the influence of nonmodifiable determinants, rare cases of familial extreme chronotype disorders, such as advanced sleep-phase syndrome, have been described (36, 37).”
From Chronotype: Implications for Epidemiologic Studies on Chrono-Nutrition and Cardiometabolic Health (2019) · cites this paper as [36]

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Authors: Von Schantz, M.
Venue: Journal of Genetics
Publisher: Springer Science and Business Media LLC
Published: 2008-12
Volume: 87
Issue: 5
Pages: 513-519
ISSN: 0022-1333 (ISSN-L)
0973-7731
DOI: 10.1007/s12041-008-0074-7
OpenAlex: W1982073551
Cited by: 85
References: 74
Citations by year: 2025: 1 · 2024: 2 · 2023: 3 · 2022: 2 · 2021: 2 · 2020: 4 · 2019: 3 · 2018: 2 · 2017: 7 · 2016: 3 · 2015: 2 · 2014: 9 · 2013: 8 · 2012: 9
FWCI: 1.01
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Journal of Genetics (publishedVersion)
PubMed (publishedVersion)
Surrey Research Insight Open Access (The University of Surrey) (submittedVersion)
Open Research (University of Surrey) (submittedVersion)
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and related disorders
Keywords: clock genes, circadian rhythm, sleep, genetic polymorphism, diurnal preference, Per2, Per3, variable number tandem repeats, advanced sleep phase syndrome, delayed sleep phase syndrome, sleep homeostasis, CK1δ
MeSH terms: Biological Clocks, Circadian Rhythm, Humans, Phenotype, Protein Kinases, Sleep, Transcription Factors, Genetic Variation, Trans-Activators, Conserved Sequence, Sleep Disorders, Circadian Rhythm, CLOCK Proteins

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Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters

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