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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.

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。

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