A Length Polymorphism in the Circadian Clock Gene Per3 is Linked to Delayed Sleep Phase Syndrome and Extreme Diurnal Preference

Archer, Simon N.; Robilliard, Donna L.; Skene, Debra J.; Smits, Marcel G.; Williams, Adrian; Arendt, Joséphine; Schantz, Malcolm von

doi:10.1093/sleep/26.4.413

Cited by 655 publications

(488 citation statements)

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“…Older participants wake up earlier relative to the morning decline in their melatonin levels (Duffy et al, 2002b) and the nadir of the core body temperature rhythm (Duffy et al, 1998), which suggests that older individuals may be waking up at an earlier circadian phase. Furthermore, changes in the internal phase angle have also been observed in young morning types (Duffy and Czeisler, 2002c) and the PER3 5/5 polymorphism is associated with morningness in young adults (Archer et al, 2003;Lázár et al, in press). Thus, aging and diurnal preference have been associated with changes in the phase angle between sleep and the melatonin rhythm (Dijk and Lockley, 2002), and our results imply that these changes are modulated by the PER3 VNTR polymorphism.…”

Section: Discussionmentioning

confidence: 99%

“…Genotyping was performed with polymerase chain reaction (PCR) as previously described (Archer et al, 2003) with some modification (Vandewalle et al, 2009).…”

Section: Study Protocolmentioning

confidence: 99%

“…In young people, the PER3 VNTR predicts diurnal preference such that those homozygous for the long repeat (PER3 5/5 ) prefer earlier wake-up and sleep time (Archer et al, 2003;Lázár et al, in press). Furthermore, in young people, the PER3 VNTR polymorphism also predicts interindividual differences in sleep structure and EEG power density in non-rapid eye movement (REM) sleep, REM sleep and wakefulness (Viola et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

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Interindividual differences in circadian rhythmicity and sleep homeostasis in older people: effect of a PER3 polymorphism

Viola

Chellappa

Archer

et al. 2012

Neurobiology of Aging

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Aging is associated with marked changes in the timing, consolidation and structure of sleep. Older people wake up frequently, get up earlier and have less slow wave sleep than young people, although the extent of these age-related changes differs considerably between individuals. Interindividual differences in homeostatic sleep regulation in young volunteers are associated with the variable-number, tandem-repeat (VNTR) polymorphism (rs57875989) in the coding region of the circadian clock gene PERIOD3 (PER3). However, predictors of these interindividual differences have yet to be identified in older people. Sleep electroencephalographic (EEG) characteristics and circadian rhythms were assessed in 26 healthy older volunteers (55-75 years) selected on the basis of homozygosity for either the long or short allele of the PER3 polymorphism. Homozygosity for the longer allele (PER3 5/5 ) associated with a phase-advance in the circadian melatonin profile and an earlier occurrence of the melatonin peak within the sleep episode. Furthermore, older PER3 5/5 participants accumulated more nocturnal wakefulness, had increased EEG frontal delta activity (0.75-1.50 Hz), and decreased EEG frontal sigma activity (11-13 Hz) during non-rapid eye movement (REM) sleep compared with PER3 4/4 participants. Our results indicate that the polymorphism in the clock gene PER3 may contribute to interindividual differences in sleep and circadian physiology in older people.

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Section: Discussionmentioning

confidence: 99%

“…Genotyping was performed with polymerase chain reaction (PCR) as previously described (Archer et al, 2003) with some modification (Vandewalle et al, 2009).…”

Section: Study Protocolmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Interindividual differences in circadian rhythmicity and sleep homeostasis in older people: effect of a PER3 polymorphism

Viola

Chellappa

Archer

et al. 2012

Neurobiology of Aging

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“…Even individuals that are genetically predisposed towards "eveningness" (a preference for the evening) versus "morningness" (a preference for the morning) are more likely to develop depression (Drennan et al, 1991;Chelminski et al, 1999). Genetic variations in the circadian genes have been found to associate with these sleep disorders and diurnal preference measures including an association between certain variants of Per2, and CK1δ with FASPS; Per3, CLOCK, and CK1ε with DSPS; and Per1, Per2, Per3 and CLOCK with diurnal preference (Katzenberg et al, 1998;Iwase et al, 2002;Archer et al, 2003;Johansson et al, 2003;Takano et al, 2004;Carpen et al, 2005;Mishima et al, 2005;Xu et al, 2005;Carpen et al, 2006;Vanselow et al, 2006). This suggests a connection between proper mood regulation and a normal functioning circadian clock.…”

Section: A Generally Disrupted Clockmentioning

confidence: 99%

Circadian genes, rhythms and the biology of mood disorders

McClung

2007

Pharmacology & Therapeutics

576

386

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For many years, researchers have suggested that abnormalities in circadian rhythms may underlie the development of mood disorders such as bipolar disorder, major depression and seasonal affective disorder. Furthermore, some of the treatments that are currently employed to treat mood disorders are thought to act by shifting or "resetting" the circadian clock, including total sleep deprivation and bright light therapy. There is also reason to suspect that many of the mood stabilizers and antidepressants used to treat these disorders may derive at least some of their therapeutic efficacy by affecting the circadian clock. Recent genetic, molecular and behavioral studies implicate individual genes that make up the clock in mood regulation. As well, important functions of these genes in brain regions and neurotransmitter systems associated with mood regulation is becoming apparent. In this review, the evidence linking circadian rhythms and mood disorders, and what is known about the underlying biology of this association, is presented.

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“…The PER3 variant is a repeat polymorphism with four or five copies of a 54-bp repetitive sequence in exon 18 (GenBank accession no. AB047686) 22,23 and is located on chromosome 17p13.1. Details of the PCR-based sequence-length polymorphism analysis are described elsewhere.…”

Section: Biological Specimen Collection and Genetic Analysismentioning

confidence: 99%

Variants in circadian genes and prostate cancer risk: a population-based study in China

Chu

Zhu

et al. 2007

Prostate Cancer Prostatic Dis

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Circadian genes influence a variety of biological processes that are important in prostate tumorigenesis including metabolism. To determine if variants in circadian genes alter prostate cancer risk, we genotyped five variants in five circadian genes in a population-based case-control study conducted in China (187 cases and 242 controls). These variants included CRY2 rs1401417:G4C, CSNK1E rs1005473:A4C, NPAS2 rs2305160:G4A, PER1 rs2585405:G4C and PER3 54-bp repeat length variant. Men with the cryptochrome 2 (CRY2)-variant C allele had a significant 1.7-fold increased prostate cancer risk (95% confidence interval (CI), 1.1-2.7) relative to those with the GG genotype. This risk increased to 4.1-fold (95% CI, 2.2-8.0) in men who also had greater insulin resistance (IR) as compared to men with the GG genotype and less IR. In contrast, among men with less IR, the NPAS2-variant A allele was associated with decreased prostate cancer risk (odds ratio ¼ 0.5, 95% CI, 0.3-1.0) as compared to the GG genotype. Our findings, although in need of confirmation, suggest that variations in circadian genes may alter prostate cancer risk and some biological processes may modify this effect.

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A Length Polymorphism in the Circadian Clock Gene Per3 is Linked to Delayed Sleep Phase Syndrome and Extreme Diurnal Preference

Abstract: The length of the Per3 repeat region identifies a potential genetic marker for extreme diurnal preference.

Cited by 655 publications

References 6 publications

Interindividual differences in circadian rhythmicity and sleep homeostasis in older people: effect of a PER3 polymorphism

Interindividual differences in circadian rhythmicity and sleep homeostasis in older people: effect of a PER3 polymorphism

Circadian genes, rhythms and the biology of mood disorders

Variants in circadian genes and prostate cancer risk: a population-based study in China

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