biostudies-literatureLane JMNIDDK NIH HHSNIA NIH HHSNHLBI NIH HHS4-20https://www.ebi.ac.uk/biostudies/studies/S-EPMC10947799biostudies-literatureUnknown24(1)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.Nature reviews. GeneticsGenetics of circadian rhythms and sleep in human health and disease.PMC10947799R35 HL135818R01 HL140574R21 AG068890K01 HL136884R01 DK102696R01 HL146751K99 HL148500R01 DK105072R01 DK107859R01 HL153969Scheer FAJLQian JMignot ESaxena RLane JMRedline SfalseGenetics of circadian rhythms and sleep in human health and disease.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.2023-01-01T00:00:00Z2023 Jan2026-04-07T15:02:04.737Z2025-02-19T03:09:52.393ZS-EPMC109477993602877310.1038/s41576-022-00519-z