昼夜节律和睡眠的遗传学及其在人类健康和疾病中的作用。
Genetics of circadian rhythms and sleep in human health and disease.
机构信息
Center for Genomic Medicine and Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Division of Sleep and Circadian Disorders, Brigham and Women's Hospital; and Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA.
出版信息
Nat Rev Genet. 2023 Jan;24(1):4-20. doi: 10.1038/s41576-022-00519-z. Epub 2022 Aug 26.
Abstract
Circadian rhythms and sleep are fundamental biological processes integral to human health. Their disruption is associated with detrimental physiological consequences, including cognitive, metabolic, cardiovascular and immunological dysfunctions. Yet many of the molecular underpinnings of sleep regulation in health and disease have remained elusive. Given the moderate heritability of circadian and sleep traits, genetics offers an opportunity that complements insights from model organism studies to advance our fundamental molecular understanding of human circadian and sleep physiology and linked chronic disease biology. Here, we review recent discoveries of the genetics of circadian and sleep physiology and disorders with a focus on those that reveal causal contributions to complex diseases.
摘要
昼夜节律和睡眠是人类健康的基本生物过程。它们的紊乱与有害的生理后果有关，包括认知、代谢、心血管和免疫功能障碍。然而，健康和疾病中睡眠调节的许多分子基础仍然难以捉摸。鉴于昼夜节律和睡眠特征的中等遗传性，遗传学提供了一个机会，可以补充模型生物研究的见解，从而深入了解人类昼夜节律和睡眠生理学以及相关慢性疾病生物学的基本分子机制。在这里，我们回顾了昼夜节律和睡眠生理学以及障碍的遗传学的最新发现，重点介绍了那些对复杂疾病有因果贡献的发现。
相似文献
1
Genetics of circadian rhythms and sleep in human health and disease.昼夜节律和睡眠的遗传学及其在人类健康和疾病中的作用。
Nat Rev Genet. 2023 Jan;24(1):4-20. doi: 10.1038/s41576-022-00519-z. Epub 2022 Aug 26.
2
The genetics of circadian rhythms, sleep and health.昼夜节律、睡眠与健康的遗传学
Hum Mol Genet. 2017 Oct 1;26(R2):R128-R138. doi: 10.1093/hmg/ddx240.
3
Genetic basis of human circadian rhythm disorders.人类昼夜节律紊乱的遗传基础。
Exp Neurol. 2013 May;243:28-33. doi: 10.1016/j.expneurol.2012.07.012. Epub 2012 Jul 28.
4
Epigenetics of sleep and chronobiology.睡眠与生物钟的表观遗传学。
Curr Neurol Neurosci Rep. 2014 Mar;14(3):432. doi: 10.1007/s11910-013-0432-6.
5
Sleep Disturbances Linked to Genetic Disorders.睡眠障碍与遗传疾病有关。
Sleep Med Clin. 2022 Mar;17(1):77-86. doi: 10.1016/j.jsmc.2021.10.005. Epub 2022 Jan 3.
6
Introduction and reflections on the comparative physiology of sleep and circadian rhythms.引言与关于睡眠和昼夜节律比较生理学的思考。
J Comp Physiol B. 2024 Jun;194(3):225-231. doi: 10.1007/s00360-024-01567-z. Epub 2024 Jun 10.
7
Genomics of circadian rhythms in health and disease.生物钟节律的基因组学：健康与疾病。
Genome Med. 2019 Dec 17;11(1):82. doi: 10.1186/s13073-019-0704-0.
8
Circadian and Sleep Metabolomics Across Species.跨物种的昼夜节律和睡眠代谢组学。
J Mol Biol. 2020 May 29;432(12):3578-3610. doi: 10.1016/j.jmb.2020.04.027. Epub 2020 May 3.
9
Novel insights from genetic and molecular characterization of the human clock.人类生物钟的遗传与分子特征研究的新见解
Cold Spring Harb Symp Quant Biol. 2007;72:273-7. doi: 10.1101/sqb.2007.72.017.
10
Circadian System and Glucose Metabolism: Implications for Physiology and Disease.昼夜节律系统与葡萄糖代谢：对生理学和疾病的影响。
Trends Endocrinol Metab. 2016 May;27(5):282-293. doi: 10.1016/j.tem.2016.03.005. Epub 2016 Apr 11.
引用本文的文献
1
A matched case-control study on the interaction of anxiety, depression, and circadian CLOCK genes (CLOCK, PER2, RORA) in sleep disorders among mental workers.一项关于心理工作者睡眠障碍中焦虑、抑郁与昼夜节律时钟基因（CLOCK、PER2、RORA）相互作用的配对病例对照研究。
Front Public Health. 2025 Aug 27;13:1579151. doi: 10.3389/fpubh.2025.1579151. eCollection 2025.
2
Research hotspots and trends in the interaction mechanisms of neuroinflammation and sleep disorders: A bibliometric analysis based on WOS.神经炎症与睡眠障碍相互作用机制的研究热点与趋势：基于Web of Science的文献计量分析
IBRO Neurosci Rep. 2025 Aug 15;19:445-455. doi: 10.1016/j.ibneur.2025.08.011. eCollection 2025 Dec.
3
Role of circadian rhythm disruption and dietary polyphenols in the prognosis of neoadjuvant therapy for locally advanced colorectal cancer.昼夜节律紊乱和膳食多酚在局部晚期结直肠癌新辅助治疗预后中的作用
Am J Cancer Res. 2025 Jul 15;15(7):3035-3050. doi: 10.62347/DIZO2176. eCollection 2025.
4
RNA Sequencing Reveals Inflammatory and Metabolic Changes in the Lung and Brain After Carbon Black and Naphthalene Whole Body Inhalation Exposure in a Rodent Model of Military Burn Pit Exposures.RNA测序揭示了在军事燃烧坑暴露啮齿动物模型中，炭黑和萘全身吸入暴露后肺和脑的炎症及代谢变化。
Int J Mol Sci. 2025 Jul 26;26(15):7238. doi: 10.3390/ijms26157238.
5
Ser107Pro links difficulty awakening in the morning to adiposity through circadian regulation of adipose thermogenesis.丝氨酸107突变为脯氨酸通过脂肪产热的昼夜节律调节，将早晨醒来困难与肥胖联系起来。
bioRxiv. 2025 Jul 30:2025.07.28.667339. doi: 10.1101/2025.07.28.667339.
6
Health risks and genetic architecture of objectively measured multidimensional sleep health.客观测量的多维睡眠健康的健康风险与遗传结构
Nat Commun. 2025 Jul 31;16(1):7026. doi: 10.1038/s41467-025-62338-0.
7
Sleep traits and risk of premature ovarian insufficiency - two-sample and multivariate mendelian randomisation analysis.睡眠特征与卵巢早衰风险——两样本及多变量孟德尔随机化分析
Prz Menopauzalny. 2025 Mar;24(1):15-24. doi: 10.5114/pm.2025.150594. Epub 2025 May 12.
8
Role of d-serine in intestinal ROS accumulation after sleep deprivation.D-丝氨酸在睡眠剥夺后肠道活性氧积累中的作用。
Sci Adv. 2025 Jul 18;11(29):eadr8592. doi: 10.1126/sciadv.adr8592.
9
Recent Advances in the Etiology and Neural Pathways Underlying Attention-Deficit and Hyperactivity Disorder.注意力缺陷多动障碍的病因及神经通路的最新进展
Curr Health Sci J. 2025 Jan-Mar;51(1):14-25. doi: 10.12865/CHSJ.51.01.02. Epub 2025 Mar 31.
10
Late bedtime was associated with increased androgen and reduced lean mass in women with polycystic ovary syndrome: a cross-sectional study.一项横断面研究表明，多囊卵巢综合征女性晚睡与雄激素水平升高及瘦体重降低有关。
J Ovarian Res. 2025 Jul 11;18(1):148. doi: 10.1186/s13048-025-01730-2.
本文引用的文献
1
The impact of Mendelian sleep and circadian genetic variants in a population setting.孟德尔睡眠和昼夜节律遗传变异在人群环境中的影响。
PLoS Genet. 2022 Sep 22;18(9):e1010356. doi: 10.1371/journal.pgen.1010356. eCollection 2022 Sep.
2
Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.从eMERGE网络中吸取的经验教训：在发现与实践中平衡基因组学。
HGG Adv. 2020 Dec 25;2(1):100018. doi: 10.1016/j.xhgg.2020.100018. eCollection 2021 Jan 14.
3
Interplay of Dinner Timing and MTNR1B Type 2 Diabetes Risk Variant on Glucose Tolerance and Insulin Secretion: A Randomized Crossover Trial.进餐时间与 MTNR1B 2 型糖尿病风险变体对葡萄糖耐量和胰岛素分泌的相互作用：一项随机交叉试验。
Diabetes Care. 2022 Mar 1;45(3):512-519. doi: 10.2337/dc21-1314.
4
Shared genetic liability and causal effects between major depressive disorder and insomnia.重度抑郁症与失眠之间的共同遗传易感性和因果关系。
Hum Mol Genet. 2022 Apr 22;31(8):1336-1345. doi: 10.1093/hmg/ddab328.
5
The Genetics of Sleep Disorders in Children: A Narrative Review.儿童睡眠障碍的遗传学：一篇叙述性综述。
Brain Sci. 2021 Sep 23;11(10):1259. doi: 10.3390/brainsci11101259.
6
Sleep and longitudinal cognitive performance in preclinical and early symptomatic Alzheimer's disease.临床前和早期症状阿尔茨海默病患者的睡眠与纵向认知表现。
Brain. 2021 Oct 22;144(9):2852-2862. doi: 10.1093/brain/awab272.
7
Discovery and implications of polygenicity of common diseases.常见疾病多基因遗传的发现及其意义。
Science. 2021 Sep 24;373(6562):1468-1473. doi: 10.1126/science.abi8206. Epub 2021 Sep 23.
8
From variant to function in human disease genetics.从变异到人类疾病遗传学中的功能。
Science. 2021 Sep 24;373(6562):1464-1468. doi: 10.1126/science.abi8207. Epub 2021 Sep 23.
9
Genetics of Sleep and Insights into Its Relationship with Obesity.睡眠遗传学及其与肥胖关系的见解。
Annu Rev Nutr. 2021 Oct 11;41:223-252. doi: 10.1146/annurev-nutr-082018-124258. Epub 2021 Jun 8.
10
Using Mendelian Randomisation methods to understand whether diurnal preference is causally related to mental health.采用孟德尔随机化方法来探究昼夜节律偏好是否与心理健康存在因果关系。
Mol Psychiatry. 2021 Nov;26(11):6305-6316. doi: 10.1038/s41380-021-01157-3. Epub 2021 Jun 8.
Zotero 插件