Genetics of circadian rhythms and sleep in human health and disease

被引：60

作者：

Lane, Jacqueline M. ^{[1
,2
,3
,4
,5
,6
]}

Qian, Jingyi ^{[4
,5
]}

Mignot, Emmanuel ^{[7
]}

Redline, Susan ^{[4
,5
]}

Scheer, Frank A. J. L. ^{[4
,5
]}

Saxena, Richa ^{[1
,2
,3
,4
,5
,6
]}

机构：

[1] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Dept Anaesthesia Crit Care & Pain Med, Boston, MA 02114 USA

[3] Harvard Med Sch, Boston, MA 02115 USA

[4] Brigham & Womens Hosp, Div Sleep & Circadian Disorders, 75 Francis St, Boston, MA 02115 USA

[5] Harvard Med Sch, Div Sleep Med, Boston, MA 02115 USA

[6] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA

[7] Stanford Univ, Ctr Narcolepsy, Palo Alto, CA 94304 USA

来源：

NATURE REVIEWS GENETICS | 2023年 / 24卷 / 01期

关键词：

GENOME-WIDE ASSOCIATION; RESTLESS LEGS SYNDROME; DIABETES RISK VARIANT; PHASE SYNDROME; LENGTH POLYMORPHISM; MOLECULAR-GENETICS; INSULIN-SECRETION; INSOMNIA SYMPTOMS; GLUCOSE-TOLERANCE; NATIONAL-SURVEY;

D O I：

10.1038/s41576-022-00519-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：4 / 20

页数：17

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