A novel association of two non-synonymous polymorphisms in PER2 and PER3 genes with specific diurnal preference subscales

Ojeda, Diego A.; Perea, Claudia S.; Niño, Carmen L.; Gutiérrez, Rafael; López-Léon, Sandra; Arboleda, Humberto; Camargo, Andrés; Adán, Ana; Forero, Diego A.

doi:10.1016/j.neulet.2013.08.016

Cited by 53 publications

(20 citation statements)

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“…Similarly, CRY1, PER1, PER2 and PER3 have been previously associated with diurnal preference (Ojeda et al, 2013; Parsons et al, 2014), sleep quality, and insomnia severity (Brower et al, 2012), although some studies have reported contradictory findings (Barclay et al, 2011; Osland et al, 2011). CRY1 , a protein-coding gene, plays a major role in repressing the transcription of CLOCK/BMAL1 and activating the transcription of PER (Ko & Takahashi, 2006; Weger et al, 2011; Hua et al, 2014).…”

Section: Discussionmentioning

confidence: 95%

“…PER2 has been previously associated with self-reported sleep duration (Parsons et al, 2014) and diurnal preference (Carpen et al, 2005; Lee et al, 2011; Ojeda et al, 2013). Although the present study did not evaluate the same polymorphisms as these prior studies, all three of the intronic SNPs examined in the present study (i.e., rs10198215, rs2304674, rs10462023) were associated with either circadian rhythm strength or phase in adjusted models, often interacting with either viral load or years since HIV diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…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%

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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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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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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“…The SNPs and deregulation of human Per genes are also linked to obesity, metabolic syndromes, type 2 diabetes, eating, mood and sleep disorders, cardiovascular diseases, aging, depression, chronic inflammation, and neurodegeneration (98, 99, 134, 164, 169, 170, 197, 229–240). …”

Section: The Circadian Genes In Cancermentioning

confidence: 99%

Circadian gene variants in cancer

2014

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Humans as diurnal beings are active during the day and rest at night. This daily oscillation of behavior and physiology is driven by an endogenous circadian clock not environmental cues. In modern societies, changes in lifestyle have led to a frequent disruption of the endogenous circadian homeostasis leading to increased risk of various diseases including cancer. The clock is operated by the feedback loops of circadian genes and controls daily physiology by coupling cell proliferation and metabolism, DNA damage repair, and apoptosis in peripheral tissues with physical activity, energy homeostasis, immune and neuroendocrine functions at the organismal level. Recent studies have revealed that defects in circadian genes due to targeted gene ablation in animal models or single nucleotide polymorphism, deletion, deregulation and/or epigenetic silencing in humans are closely associated with increased risk of cancer. In addition, disruption of circadian rhythm can disrupt the molecular clock in peripheral tissues in the absence of circadian gene mutations. Circadian disruption has recently been recognized as an independent cancer risk factor. Further study of the mechanism of clock-controlled tumor suppression will have a significant impact on human health by improving the efficiencies of cancer prevention and treatment.

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“…Accordingly, polymorphisms in PER2 and PER3 are related with diurnal activity (Ojeda et al 2013 ), whereas mutations in a transcriptional repressor protein (DEC2) are associated with human short time sleep phenotype , and variations in the intronic sequences of the CLOCK gene are associated with sleep duration (Allebrandt et al 2010 ).…”

Section: Sleep/circadian Disordersmentioning

confidence: 99%