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.
Nat Rev Genet. 2023 Jan;24(1):4-20. doi: 10.1038/s41576-022-00519-z. Epub 2022 Aug 26.
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.
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。
