Circadian Rhythm Effects on the Molecular Regulation of Physiological Systems

Crislip, G. Ryan; Johnston, Jermaine G.; Douma, Lauren G.; Costello, Hannah M; Juffre, Alexandria; Boyd, Kyla; Li, Wendy; Maugans, Cheoting C; Gutierrez‐Monreal, Miguel A.; Esser, Karyn A.; Bryant, Andrew J.; Liu, Andrew C.; Gumz, Michelle L.

doi:10.1002/cphy.c210011

Cited by 10 publications

(5 citation statements)

References 310 publications

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“…Circadian rhythm played critical roles in a range of disease pathogenesis, from physical illnesses such as cardiovascular disease, kidney disease, and malignant tumors, to mental health disorders such as depression and anxiety [34][35][36][37][38]. The disruption of circadian rhythms is involved in the pathogenesis of various diseases, through the mediation of immune and metabolic disturbances [39][40][41]. Hence, physical intervention, or molecularly targeting circadian genes could help to avoid illness and to optimize treatment outcomes [42][43][44].…”

Section: Discussionmentioning

confidence: 99%

The skin circadian clock gene F3 as a potential marker for psoriasis severity and its bidirectional relationship with IL-17 signaling in keratinocytes

Yuan,

Ou,

et al. 2024

Preprint

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Background Psoriasis is an immune-mediated skin disease where the IL-17 signaling pathway plays a crucial role in its development. Chronic circadian rhythm disorder in psoriasis pathogenesis is gaining more attention. The relationship between IL-17 signaling pathway and skin clock genes remains poorly understood. Methods GSE121212 with psoriatic lesion and healthy controls was used as exploration cohort for searching analysis. Datasets GSE117239, GSE51440, GSE137218 that contained effective biologics treating psoriasis overtime were applied to validation analysis. Single cell RNA sequencing (scRNA-seq) dataset GSE173706 were used to explore the F3 expression and related pathway activities in single cell levels. Through intersecting with high expression DEGs, F3 was selected as the signature skin circadian gene in psoriasis for further investigation. Functional analyses, including correlation analyses, prediction of transcription factors, protein-protein interaction, single gene GSEA to explore the potential roles of F3. ssGSEA algorithm was performed to uncover the immune related characteristics of psoriasis. We further explored F3 expression in specific cell population in scRNA-seq dataset, besides this, AUCell analysis was performed to explore the pathway activities and the results were further compared between specific cell cluster. Immunohistochemistry experiment, RT-qPCR was used to validate the location and expression of F3, small interfering RNA (siRNA) transfection experiment in HaCaT and transcriptome sequencing analysis were applied to explore the potential function of F3. Results F3 was significantly down-regulated in psoriasis and interacted with IL-17 signaling pathway. Low expression of F3 could upregulate the receptor of JAK-STAT signaling, thereby promoting keratinocytes inflammation. Conclusion Our research revealed a bidirectional link between the skin circadian gene F3 and the IL-17 signaling pathway in psoriasis, suggesting that F3 may interact with the IL-17 pathway by activating JAK-STAT within keratinocytes and inducing abnormal intracellular inflammation.

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Section: Discussionmentioning

confidence: 99%

The skin circadian clock gene F3 as a potential marker for psoriasis severity and its bidirectional relationship with IL-17 signaling in keratinocytes

Yuan,

Ou,

et al. 2024

Preprint

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show abstract

“…Recent genetic studies have advanced the field of circadian rhythms (Crislip et al, 2021; Lane et al, 2023; Jones et al, 2019; Vitaterna et al, 2019). The goal of this study was to see to what extent the genetic predisposition for circadian rhythm–related proxies like morningness and RA reflecting rest-activity rhythm, captured with a PGS, could be used to predict wellbeing, depressive symptoms, chronotype, and health.…”

Section: Discussionmentioning

confidence: 99%

Using Polygenic Scores for Circadian Rhythms to Predict Wellbeing, Depressive Symptoms, Chronotype, and Health

Landvreugd,

Pool,

Nivard

et al. 2024

J Biol Rhythms

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The association between circadian rhythms and diseases has been well established, while the association with mental health is less explored. Given the heritable nature of circadian rhythms, this study aimed to investigate the relationship between genes underlying circadian rhythms and mental health outcomes, as well as a possible gene-environment correlation for circadian rhythms. Polygenic scores (PGSs) represent the genetic predisposition to develop a certain trait or disease. In a sample from the Netherlands Twin Register ( N = 14,021), PGSs were calculated for two circadian rhythm measures: morningness and relative amplitude (RA). The PGSs were used to predict mental health outcomes such as subjective happiness, quality of life, and depressive symptoms. In addition, we performed the same prediction analysis in a within-family design in a subset of dizygotic twins. The PGS for morningness significantly predicted morningness ( R2 = 1.55%) and depressive symptoms ( R2 = 0.22%). The PGS for RA significantly predicted general health ( R2 = 0.12%) and depressive symptoms ( R2 = 0.20%). Item analysis of the depressive symptoms showed that 4 out of 14 items were significantly associated with the PGSs. Overall, the results showed that people with a genetic predisposition of being a morning person or with a high RA are likely to have fewer depressive symptoms. The four associated depressive symptoms described symptoms related to decision-making, energy, and feeling worthless or inferior, rather than sleep. Based on our findings future research should include a substantial role for circadian rhythms in depression research and should further explore the gene-environment correlation in circadian rhythms.

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“…Sleep-awake cycle is controlled by the suprachiasmatic nucleus (SCN) of the midbrain. SCN receives photoperiodic information from intrinsic photosensitive retinal ganglionic cells (ipRGCs) in retina, through the retinal-hypothalamic pathway, and subsequently regulates the sleep-awake cycle of human body ( Crislip et al, 2021 ). Decleva et al (2022) reported the impaired pupil light reflex (PLR) and function of ipRGCs in patients with early and neovascular AMD.…”

Section: Discussionmentioning

confidence: 99%

Sleep duration and age-related macular degeneration: a cross-sectional and Mendelian randomization study

Lei,

Liu,

2023

Front. Aging Neurosci.

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PurposeTo investigate the association between sleep duration and age-related macular degeneration (AMD).DesignCross-sectional study, bidirectional two-sample Mendelian randomization (MR). For cross-sectional analysis, we used survey data of 5,481 participants aged ≥40 years from the 2005 to 2008 National Health and Nutrition Examination Survey (NHANES). For MR analysis, we used sleep- and AMD-associated genome-wide association studies (GWAS) data involving large populations.MethodsThe association between sleep duration and AMD was assessed using logistic regression models. For MR analysis, the primary approach for MR analysis was the inverse-variance weighted (IVW) method.ResultsIn cross-sectional analysis, after adjusting for multiple covariates, short sleep duration (SSD) was found to be associated with increased risk of early AMD [odds ratio (OR) = 1.364, P = 0.036). MR analysis supported the results of cross-sectional analysis: SSD increases the risk of early AMD (β = 0.102, IVW-P = 0.003).ConclusionOur findings provide the evidence supporting the association between sleep deficiency and higher risk of AMD. Further studies are required to confirm our findings and elucidate the mechanisms underlying this association.

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Circadian Rhythm Effects on the Molecular Regulation of Physiological Systems

Cited by 10 publications

References 310 publications

The skin circadian clock gene F3 as a potential marker for psoriasis severity and its bidirectional relationship with IL-17 signaling in keratinocytes

The skin circadian clock gene F3 as a potential marker for psoriasis severity and its bidirectional relationship with IL-17 signaling in keratinocytes

Using Polygenic Scores for Circadian Rhythms to Predict Wellbeing, Depressive Symptoms, Chronotype, and Health

Sleep duration and age-related macular degeneration: a cross-sectional and Mendelian randomization study

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