Genetics of circadian rhythms and sleep in human health and disease

Lane, Jacqueline M.; Qian, Jie; Mignot, Emmanuel; Redline, Susan; Scheer, Frank A.J.L.; Saxena, Richa

doi:10.1038/s41576-022-00519-z

Cited by 95 publications

(63 citation statements)

References 192 publications

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“…Furthermore, negative associations with RVEDV were found for daytime nap and chronotype ( β range = [-0.0613, -0.0610], P < 1.30×10 −7 ). Human health is closely related to sleep chronotypes 45 , which are behavioral manifestations of circadian rhythms 79 . In perspective studies, early chronotype is often regarded as a sign of healthy sleep behavior 80,81 .…”

Section: Resultsmentioning

confidence: 99%

“…We used the data coded by the UKB study and removed the subjects with responses "do not know" or "prefer not to answer". In our phenotypic analysis, we used the white British imaging individuals in UKB phases 1 to 3 data release (released up through 2020, average n = 29,025, mean age range = (45,82), mean = 64.15, standard error = 7.67, and proportion of female was 51.6%). We fitted linear models for each pair of sleep and imaging traits, in which we adjusted for the effects of age (at imaging), age-squared, sex, age-sex interaction, age-squared-sex interaction, imaging site code, the top 40 genetic principal components (PCs) 123 , volumetric scaling, head motion, head motion-squared, brain position, and brain positionsquared 53,55 .…”

Section: Note: One Supplementary Information Pdf File and One Supplem...mentioning

confidence: 99%

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The role of sleep in the human brain and body: insights from multi-organ imaging genetics

Fan

Shu

et al. 2022

Preprint

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Sleep is essential for the health of the brain and heart. Although sleep has been identified as a factor in a few specific clinical outcomes, a systematic analysis of the relationship between sleep and brain/heart and their genetic underpinnings is lacking. Medical images can provide useful clinical endophenotypes for organ structures and functions. Here we present a systematic genetic investigation of sleep-brain/heart connections using multi-modal brain and cardiac images from over 40,000 subjects in the UK Biobank. We identified novel phenotypic and genetic links between sleep and a wide range of imaging traits, such as brain structures, white matter integrity, brain activities, as well as cardiac structures and functions. We prioritized a number of imaging modalities and traits for specific sleep conditions, such as the resting brain function measures in the somatomotor network with narcolepsy. Sleep and imaging had overlapping genetic influences in 39 genomic loci, some of which showed evidence of shared causal genetic variants. In conclusion, large-scale imaging genetic data illuminate the implications of sleep on brain and cardiac health and their genetic links. An interactive web browser (www.ig4sleep.org) has been developed to facilitate exploring our results.

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Section: Resultsmentioning

confidence: 99%

Section: Note: One Supplementary Information Pdf File and One Supplem...mentioning

confidence: 99%

The role of sleep in the human brain and body: insights from multi-organ imaging genetics

Fan

Shu

et al. 2022

Preprint

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“…Information on covariates such as diet quality and quantity, fasting days, fasting period per day, and trimester exposure should also be collected and considered during analysis. In addition to diet, exercise [ 97 ] and sleep [ 98 ] can regulate the circadian rhythm, so the interaction between diet, sleep, exercise, and circadian rhythm can be further explored in the future. Since chrononutrition factors are interrelated, more advanced statistical techniques, for example those that consider these factors holistically as “temporal dietary patterns” [ 99 ], may help to generate further insights.…”

Section: Discussionmentioning

confidence: 99%

Chrononutrition during Pregnancy and Its Association with Maternal and Offspring Outcomes: A Systematic Review and Meta-Analysis of Ramadan and Non-Ramadan Studies

2023

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Much evidence suggests that food intakes and eating patterns are major determinants of the phase of peripheral circadian clocks, and desynchronization between them is thought to contribute to the development of metabolic disorders. However, much remains to be understood about how different dimensions of chrononutrition during pregnancy affect pregnant women’s and their offspring’s health outcomes. Therefore, we systematically reviewed and integrated all emerging evidence on chrononutrition during pregnancy (including meal skipping, meal frequency, night eating, and (Ramadan) fasting) and their relationships with maternal and offspring outcomes. The results suggest that meal skipping and night eating during pregnancy were generally associated with adverse pregnancy and birth outcomes, whereas no strong conclusion could be reached for meal frequency. In our meta-analysis, Ramadan fasting did not seem to be related with birth weight or gestational age at birth, but evidence for other mother–offspring outcomes was inconsistent. To further elucidate the effect of chrononutrition factors on maternal and offspring health outcomes, larger and well-conducted prospective cohort and interventional studies are needed. In addition, information on covariates such as physical activity, sleep, diet quality and quantity, fasting days, fasting period per day, and trimester exposure should also be collected and considered during analysis.

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“…Sleep is a fundamental biological need and is homeostatically controlled: when sleep is disrupted an elevated drive to sleep (i.e., sleepiness) is produced that is associated with decreased performance, well-being, and safety (1)(2)(3)(4)(5). Sleep disruption is ubiquitous in the modern age and contributes significantly to a wide array of negative health consequences in humans (6,7).…”

Section: Introductionmentioning

confidence: 99%

Homeostatic Control of Deep Sleep inDrosophila: Implications for Discovering Correlates of Sleep Pressure

Chowdhury

Abhilash

Ortega

et al. 2022

Preprint

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A defining feature of sleep is its homeostatic control, which is most clearly expressed as increased sleep after forced wakefulness. Drosophila has served as a powerful model system for understanding the homeostatic control of sleep and ongoing work continues to be an important complement to studies in mammals and other vertebrate models. Nevertheless, there are significant challenges confronting investigators of sleep regulation in Drosophila. For example, the magnitude of sleep rebound in flies is relatively modest, providing a small dynamic range over which to detect changes in homeostatic responses in experimental subjects. In addition, the perturbation necessary to keep flies awake is associated with physiological and behavioral responses that may obscure homeostatic sleep responses. Furthermore, the analysis of fly sleep as a unitary state, without differentiation between shallow and deep sleep states, clouds our ability to fully characterize homeostatic sleep responses. To address these challenges, we describe the development of a yoked-controlled paradigm for flies that allows us to produce two sets of flies that have experienced identical levels of mechanical perturbation while suffering significantly different amounts of sleep deprivation. Moreover, by differentiating long bouts of sleep from all sleep, we show that flies display significant and lasting homeostatic increases in such long bouts following sleep deprivation, that are only detectable when controlling for the sleep-independent effects of mechanical deprivation. Finally, we illustrate the importance of yoked controls for examining the molecular correlates of sleep pressure. Our work introduces methodological approaches that are likely to support the discovery of new mechanisms of sleep regulation in the fly and calls for the reevaluation of previous work identifying the molecular, physiological, and cellular correlates of sleep pressure.

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Genetics of circadian rhythms and sleep in human health and disease

Cited by 95 publications

References 192 publications

The role of sleep in the human brain and body: insights from multi-organ imaging genetics

The role of sleep in the human brain and body: insights from multi-organ imaging genetics

Chrononutrition during Pregnancy and Its Association with Maternal and Offspring Outcomes: A Systematic Review and Meta-Analysis of Ramadan and Non-Ramadan Studies

Homeostatic Control of Deep Sleep inDrosophila: Implications for Discovering Correlates of Sleep Pressure

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