Association of PER2 gene single nucleotide polymorphisms with genetic susceptibility to systemic lupus erythematosus

Dan, Yi-Lin; Zhao, Chan-Na; Mao, Yan-Mei; Wu, Qian; He, Yisheng; Hu, Yun; Xiang, Kun; Yang, Xiao‐Ke; Sam, Napoleon Bellua; Wu, Guo-Cui; Pan, Hai‐Feng

doi:10.1177/0961203321989794

Cited by 10 publications

(5 citation statements)

References 25 publications

(33 reference statements)

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“…24 25 Furthermore, animal models have confirmed the existence of a dependence relationship between the expression of CLOCK and the activity of inducible nitric oxide synthase, 26 which is found to be overproduced in the context of lupus activity. 27 In addition, Dan et al found that PER2 gene SNPs were related to the genetic 28 This result is consistent with our findings. The expression of PER1 was higher in LN and flare-activated SLE, whereas CRY1 and CLOCK were higher in these subpopulations.…”

Section: Discussionsupporting

confidence: 92%

Exacerbating effects of circadian rhythm disruption on the systemic lupus erythematosus

Shen,

Han,

Luo

et al. 2024

Lupus Sci Med

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ObjectiveCircadian rhythm disruption (CRD) has been associated with inflammation and immune disorders, but its role in SLE progression is unclear. We aimed to investigate the impact of circadian rhythms on immune function and inflammation and their contribution to SLE progression to lupus nephritis (LN).MethodsThis study retrospectively analysed the clinical characteristics and transcriptional profiles of 373 samples using bioinformatics and machine-learning methods. A flare risk score (FRS) was established to predict overall disease progression for patients with lupus. Mendelian randomisation was used to analyse the causal relationship between CRD and SLE progression.ResultsAbnormalities in the circadian pathway were detected in patients with SLE, and lower enrichment levels suggested a disease state (normalised enrichment score=0.6714, p=0.0062). The disruption of circadian rhythms was found to be closely linked to lupus flares, with the FRS showing a strong ability to predict disease progression (area under the curve (AUC) of 5-year prediction: 0.76). The accuracy of disease prediction was improved by using a prognostic nomogram based on FRS (AUC=0.77). Additionally, Mendelian randomisation analysis revealed an inverse causal relationship between CRD and SLE (OR 0.6284 (95% CI 0.3630 to 1.0881), p=0.0485) and a positive causal relationship with glomerular disorders (OR 0.0337 (95% CI 1.634e-3 to 6.934e-1), p=0.0280).ConclusionOur study reveals that genetic characteristics arising from CRD can serve as biomarkers for predicting the exacerbation of SLE. This highlights the crucial impact of CRD on the progression of lupus.

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Section: Discussionsupporting

confidence: 92%

Exacerbating effects of circadian rhythm disruption on the systemic lupus erythematosus

Shen,

Han,

Luo

et al. 2024

Lupus Sci Med

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“…Complementing this finding, additional research suggests that relatives of SLE patients who consistently sleep less than 7 h per night face an elevated risk of developing the disease 182 . Moreover, genetic factors contribute to this correlation as evidenced by the association of single nucleotide polymorphisms in the PER2 gene with both the susceptibility to and clinical manifestations of SLE 183 . Conversely, patients with SLE, or those at risk of developing it, often experience sleep disturbances, which significantly impair their quality of life 184 …”

Section: Circadian Regulation Of Diseasesmentioning

confidence: 99%

“…182 Moreover, genetic factors contribute to this correlation as evidenced by the association of single nucleotide polymorphisms in the PER2 gene with both the susceptibility to and clinical manifestations of SLE. 183 Conversely, patients with SLE, or those at risk of developing it, often experience sleep disturbances, which significantly impair their quality of life. 184 Studies have highlighted the role of circadian clock proteins in the pathogenesis of SLE.…”

Section: Systemic Lupus Erythematosus (Sle)mentioning

confidence: 99%

The role of circadian clock in regulating cell functions: implications for diseases

Lin,

He,

Cai

et al. 2024

MedComm

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The circadian clock system orchestrates daily behavioral and physiological rhythms, facilitating adaptation to environmental and internal oscillations. Disruptions in circadian rhythms have been linked to increased susceptibility to various diseases and can exacerbate existing conditions. This review delves into the intricate regulation of diurnal gene expression and cell function by circadian clocks across diverse tissues. . Specifically, we explore the rhythmicity of gene expressions, behaviors, and functions in both immune and non‐immune cells, elucidating the regulatory effects and mechanisms imposed by circadian clocks. A detailed discussion is centered on elucidating the complex functions of circadian clocks in regulating key cellular signaling pathways. We further review the circadian regulation in diverse diseases, with a focus on inflammatory diseases, cancers, and systemic diseases. By highlighting the intimate interplay between circadian clocks and diseases, especially through clock‐controlled cell function, this review contributes to the development of novel disease intervention strategies. This enhanced understanding holds significant promise for the design of targeted therapies that can exploit the circadian regulation mechanisms for improved treatment efficacy.

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“…3 ), an important enzyme for DNA methylation, has been found to have a positive correlation with disease severity and with co-existing periodontitis in the Brazilian population, depicting the interplay between genetics and epigenetic factors and lupus pathology [ 54 ]. Polymorphism associated with circadian rhythms can also play an important role in disease, where the SNP in the Period 2 gene (PER2), a circadian clock regulatory gene, was also found to be positively associated with the clinical manifestation of SLE pathogenesis [ 55 ]. Furthermore, analysis of SNP in various cytokines including IL-1β, IL-17, and IL-10 (Fig.…”

Section: Genetic Factorsmentioning

confidence: 99%

Systemic lupus erythematosus: latest insight into etiopathogenesis

et al. 2023

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Systemic lupus erythematosus (SLE) is a complex autoimmune disorder of unknown etiology. Multifactorial interaction among various susceptible factors such as environmental, hormonal, and genetic factors makes it more heterogeneous and complex. Genetic and epigenetic modifications have been realized to regulate the immunobiology of lupus through environmental modifications such as diet and nutrition. Although these interactions may vary from population to population, the understanding of these risk factors can enhance the perception of the mechanistic basis of lupus etiology. To recognize the recent advances in lupus, an electronic search was conducted among search engines such as Google Scholar and PubMed, where we found about 30.4% publications of total studies related to genetics and epigenetics, 33.5% publications related to immunobiology and 34% related to environmental factors. These outcomes suggested that management of diet and lifestyle have a direct relationship with the severity of lupus that influence via modulating the complex interaction among genetics and immunobiology. The present review emphasizes the knowledge about the multifactorial interactions between various susceptible factors based on recent advances that will further update the understanding of mechanisms involved in disease pathoetiology. Knowledge of these mechanisms will further assist in the creation of novel diagnostic and therapeutic options.

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Association of PER2 gene single nucleotide polymorphisms with genetic susceptibility to systemic lupus erythematosus

Cited by 10 publications

References 25 publications

Exacerbating effects of circadian rhythm disruption on the systemic lupus erythematosus

Exacerbating effects of circadian rhythm disruption on the systemic lupus erythematosus

The role of circadian clock in regulating cell functions: implications for diseases

Systemic lupus erythematosus: latest insight into etiopathogenesis

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