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本文引用的文献

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Sleep. 2019 Oct 9;42(10). doi: 10.1093/sleep/zsz148.
2
Longitudinal change of sleep timing: association between chronotype and longevity in older adults.睡眠时相的纵向变化:老年人的睡眠类型与长寿之间的关系。
Chronobiol Int. 2019 Sep;36(9):1285-1300. doi: 10.1080/07420528.2019.1641111. Epub 2019 Jul 22.
3
Investigating causal relations between sleep traits and risk of breast cancer in women: mendelian randomisation study.调查女性睡眠特征与乳腺癌风险之间的因果关系:孟德尔随机化研究。
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TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.TIMLESS 突变改变了相位反应性,导致睡眠相位提前。
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Influence of chronotype on migraine characteristics.时型对偏头痛特征的影响。
Neurol Sci. 2019 Sep;40(9):1841-1848. doi: 10.1007/s10072-019-03886-4. Epub 2019 May 2.
6
Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.基于加速度计的睡眠测量的遗传研究为人类睡眠行为提供了新的见解。
Nat Commun. 2019 Apr 5;10(1):1585. doi: 10.1038/s41467-019-09576-1.
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Chronotype Genetic Variant in PER2 is Associated with Intrinsic Circadian Period in Humans.PER2 基因中的生物钟遗传变异与人类内在生物钟周期有关。
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Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.全基因组关联研究鉴定了自我报告的习惯性睡眠时长的遗传位点,这些时长是通过加速度计估计得出的。
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9
Human circadian phase-response curves for exercise.人体运动的昼夜节律相位反应曲线。
J Physiol. 2019 Apr;597(8):2253-2268. doi: 10.1113/JP276943. Epub 2019 Mar 18.
10
Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.对 697828 个人的生物钟进行全基因组关联分析,为昼夜节律提供了新的见解。
Nat Commun. 2019 Jan 29;10(1):343. doi: 10.1038/s41467-018-08259-7.

人类生物钟和睡眠稳态的遗传学

Genetics of the human circadian clock and sleep homeostat.

机构信息

Department of Neurology, University of California San Francisco, San Francisco, CA, 94143, USA.

Department of Psychiatry, University of California San Francisco, San Francisco, CA, 94143, USA.

出版信息

Neuropsychopharmacology. 2020 Jan;45(1):45-54. doi: 10.1038/s41386-019-0476-7. Epub 2019 Aug 10.

DOI:10.1038/s41386-019-0476-7
PMID:31400754
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6879540/
Abstract

Timing and duration of sleep are controlled by the circadian system, which keeps an ~24-h internal rhythm that entrains to environmental stimuli, and the sleep homeostat, which rises as a function of time awake. There is a normal distribution across the population in how the circadian system aligns with typical day and night resulting in varying circadian preferences called chronotypes. A portion of the variation in the population is controlled by genetics as shown by the single-gene mutations that confer extreme early or late chronotypes. Similarly, there is a normal distribution across the population in sleep duration. Genetic variations have been identified that lead to a short sleep phenotype in which individuals sleep only 4-6.5 h nightly. Negative health consequences have been identified when individuals do not sleep at their ideal circadian timing or are sleep deprived relative to intrinsic sleep need. Whether familial natural short sleepers are at risk of the health consequences associated with a short sleep duration based on population data is not known. More work needs to be done to better assess for an individual's chronotype and degree of sleep deprivation to answer these questions.

摘要

睡眠的时间和持续时间受昼夜节律系统的控制,该系统保持着大约 24 小时的内部节律,与环境刺激同步,并随着清醒时间的增加而上升。在人群中,昼夜节律系统与典型的昼夜节律如何同步存在正态分布,从而导致不同的昼夜节律偏好,称为睡眠时型。正如赋予极端早睡或晚睡睡眠时型的单基因突变所表明的那样,人群中的一部分变异受遗传控制。同样,在人群中,睡眠时间也存在正态分布。已经确定了一些遗传变异,导致短睡眠表型,个体每晚仅睡 4-6.5 小时。当个体的睡眠与内在睡眠需求相比没有按照理想的昼夜节律时间进行或睡眠不足时,会出现负面的健康后果。家族性自然的少睡者是否存在基于人群数据的与短睡眠时间相关的健康后果风险尚不清楚。需要做更多的工作来更好地评估个体的睡眠时型和睡眠剥夺程度,以回答这些问题。