Screening of Clock Gene Polymorphisms Demonstrates Association of a PER3 Polymorphism with Morningness–Eveningness Preference and Circadian Rhythm Sleep Disorder

Hida, Akiko; Kitamura, Shingo; Katayose, Yasuko; Kato, Mie; Ono, Hiroko; Kadotani, Hiroshi; Uchiyama, Makoto; Ebisawa, Takashi; Inoue, Yuichi; Kamei, Yuichi; Okawa, Masako; Takahashi, Keiichi; Mishima, Kazuo

doi:10.1038/srep06309

Cited by 114 publications

(103 citation statements)

References 52 publications

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“…The two specific polymorphisms examined in this study alter coding regions containing phosphorylation sites. Reduced phosphorylation of PER3 may be associated with a lengthening of period and a delay in the circadian phase, both of which are typically associated with an evening phenotype [14462524]. This delay in circadian phase exacerbates the social jetlag (or misalignment of internal rhythms with daily sleep patterns) [423043], and likely enhances the offset in the physiological peak of evening-types.…”

Section: Discussionmentioning

confidence: 99%

Circadian Effects on Performance and Effort in Collegiate Swimmers

Anderson¹,

Murray²,

Herlihy³

et al. 2018

Journal of Circadian Rhythms

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Although individual athletic performance generally tends to peak in the evening, individuals who exhibit a strong diurnal preference perform better closer to their circadian peak. Time-of-day performance effects are influenced by circadian phenotype (diurnal preference and chronotype—sleep-wake patterns), homeostatic energy reserves and, potentially, genotype, yet little is known about how these factors influence physiological effort. Here, we investigate the effects of time of day, diurnal preference, chronotype, and PER3 (a circadian clock gene) genotype on both effort and performance in a population of Division I collegiate swimmers (n = 27). Participants competed in 200m time trials at 7:00 and 19:00 and were sampled pre- and post-trial for salivary α-amylase levels (as a measure of physiological effort), allowing for per-individual measures of performance and physiological effort. Hair samples were collected for genotype analysis (a variable-number tandem-repeat (VNTR) and a single nucleotide polymorphism (SNP) in PER3). Our results indicate significant and parallel time-of-day by circadian phenotype effects on swim performance and effort; evening-type swimmers swam on average 6% slower with 50% greater α-amylase levels in the morning than they did in the evening, and morning types required 5–7 times more effort in the evening trial to achieve the same performance result as the morning trial. In addition, our results suggest that these performance effects may be influenced by gene (circadian clock gene PER3 variants) by environment (time of day) interactions. Participants homozygous for the PER34,4 length variant (rs57875989) or who possess a single G-allele at PER3 SNP rs228697 swam 3–6% slower in the morning. Overall, these results suggest that intra-individual variation in athletic performance and effort with time of day is associated with circadian phenotype and PER3 genotype.

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Section: Discussionmentioning

confidence: 99%

Circadian Effects on Performance and Effort in Collegiate Swimmers

Anderson¹,

Murray²,

Herlihy³

et al. 2018

Journal of Circadian Rhythms

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“…In addition, the inability to work may influence one’s regular daytime schedule of activity and affect circadian rhythms as well as sleep. Not surprisingly, sleep patterns and disturbances have also been associated with genes involved in circadian regulation, such as circadian locomotor output cycles kaput [ CLOCK ] , cryptochrome [ CRY1 ], and period [ PER1, PER2, PER3 ] (Allebrandt et al, 2010; Ojeda et al, 2013; Zhang et al, 2013; Hida et al, 2014; Parsons et al, 2014). However, there are no published genetic association studies evaluating the extent to which such circadian genes might account for phenotypic sleep problems commonly experienced by adults living with HIV.…”

Section: Introductionmentioning

confidence: 99%

Circadian regulation gene polymorphisms are associated with sleep disruption and duration, and circadian phase and rhythm in adults with HIV

Lee

Byun

Lerdal

et al. 2015

Chronobiology International

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Genes involved in circadian regulation, such as circadian locomotor output cycles kaput [CLOCK], cryptochrome [CRY1], and period [PER], have been associated with sleep outcomes in prior animal and human research. However, it is unclear whether polymorphisms in these genes are associated with the sleep disturbances commonly experienced by adults living with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). Thus, the purpose of this study was to describe polymorphisms in selected circadian genes that are associated with sleep duration or disruption as well as the sleep-wake rhythm strength and phase timing among adults living with HIV/AIDS. A convenience sample of 289 adults with HIV/AIDS was recruited from HIV clinics and community sites in the San Francisco Bay Area. A wrist actigraph was worn for 72 hours on weekdays to estimate sleep duration or total sleep time (TST), sleep disruption or percentage of wake after sleep onset (WASO), and several circadian rhythm parameters: mesor, amplitude, the ratio of mesor to amplitude (circadian quotient), and 24-hour autocorrelation. Circadian phase measures included clock time for peak activity (acrophase) from actigraphy movement data, and bed time and final wake time from actigraphy and self-report. Genotyping was conducted for polymorphisms in 5 candidate genes involved in circadian regulation: CLOCK, CRY1, PER1, PER2, and PER3. Demographic and clinical variables were evaluated as potential covariates. Interactions between genotype and HIV variables (i.e., viral load, years since HIV diagnosis) were also evaluated. Controlling for potentially confounding variables (e.g., race, gender, CD4+ T-cell count, waist circumference, medication use, smoking, depressive symptoms), CLOCK was associated with WASO, 24-hour autocorrelation, and objectively-measured bed time; CRY1 was associated with circadian quotient; PER1 was associated with mesor and self-reported habitual wake time; PER2 was associated with TST, mesor, circadian quotient, 24-hour autocorrelation, and bed and wake times; PER3 was associated with amplitude, 24-hour autocorrelation, acrophase, and bed and wake times. Most of the observed associations involved a significant interaction between genotype and HIV. In this chronic illness population, polymorphisms in several circadian genes were associated with measures of sleep disruption and timing. These findings extend the evidence for an association between genetic variability in circadian regulation and sleep outcomes to include the sleep-wake patterns experienced by adults living with HIV/AIDS. These results provide direction for future intervention research related to circadian sleep-wake behavior patterns.

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“…Polymorphisms in the so-called clock genes have been associated with both pathologic and non-pathologic variations in diurnal preference (Archer et al, 2003). A significant amount of literature data are available on the clock gene PER3 (Hida et al, 2014). The polymorphism of this gene consists of either 4 or 5 repeated 54-bp sequences, encoding for 18 amino acids.…”

Section: Discussionmentioning

confidence: 99%

The self-morningness/eveningness (Self-ME): An extremely concise and totally subjective assessment of diurnal preference

Turco¹,

Corrias²,

Chiaromanni³

et al. 2015

Chronobiology International

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The assessment of diurnal preference, or the preferred timing of sleep and activity, is generally based on comprehensive questionnaires such as the Horne-Östberg (HÖ). The aim of the present study was to assess the reliability of a subject's self-classification as extremely morning (Self-MM), more morning than evening (Self-M), more evening than morning (Self-E) or extremely evening (Self-EE) type, based on the last question of the HÖ (Self-ME). A convenience sample of 461 subjects [23.8 ± 4.7 years; 322 females] completed a full sleep-wake assessment, including diurnal preference (HÖ), night sleep quality (Pittsburgh Sleep Quality Index, PSQI), daytime sleepiness (Karolinska Sleepiness Scale, KSS), and habitual sleep-wake timing (12 d sleep diaries; n = 296). Significant differences in HÖ total score were observed between Self-ME classes, with each class being significantly different from neighboring classes (p < 0.0001). Significant differences in sleep-wake timing (bed time, try to sleep and sleep onset, wake up, and get up time) were observed between Self-ME classes. Such differences were maintained when sleep-wake habits were analysed separately on work and free days, and also in a smaller group of 67 subjects who completed the Self-ME as a stand-alone rather than as part of the original questionnaire. Significant differences were observed in the time-course of subjective sleepiness by Self-ME class in both the large and the small group, with Self-MM and Self-M subjects being significantly more alert in the morning and sleepier in the evening hours compared with their Self-E and Self-EE counterparts. Finally, significant differences were observed in night sleep quality between Self-ME classes, with Self-EE/Self-E subjects sleeping worse than their Self-MM/Self-M counterparts, and averaging just over the abnormality PSQI threshold of 5. In conclusion, young, healthy adults can define their diurnal preference based on a single question (Self-ME) in a way that reflects their sleep-wake timing, their sleepiness levels over the daytime hours, and their night sleep quality. Validation of the Self-ME across the decades and in diseased populations seems worthy.

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Screening of Clock Gene Polymorphisms Demonstrates Association of a PER3 Polymorphism with Morningness–Eveningness Preference and Circadian Rhythm Sleep Disorder

Cited by 114 publications

References 52 publications

Circadian Effects on Performance and Effort in Collegiate Swimmers

Circadian Effects on Performance and Effort in Collegiate Swimmers

Circadian regulation gene polymorphisms are associated with sleep disruption and duration, and circadian phase and rhythm in adults with HIV

The self-morningness/eveningness (Self-ME): An extremely concise and totally subjective assessment of diurnal preference

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