Bioinformatics analyses of gene expression profile identify key genes and functional pathways involved in cutaneous lupus erythematosus

Gao, Zhenyu; Su, Lin‐Chong; Wu, Qingchao; Sheng, Jiao-E; Wang, Yunlong; Dai, Yufang; Chen, Anping; He, Sanshan; Huang, Xia

doi:10.1007/s10067-021-05913-2

Cited by 6 publications

(5 citation statements)

References 67 publications

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“…A previous article discussed whether it is measles or secondary HLH for a case diagnosis ( Iaria et al, 2012 ; Lupo et al, 2012 ), which suggests some similar pathogenic mechanisms between EBV-HLH and measles. In addition, the measles signaling pathway is also significantly enriched in COVID-19 and systemic lupus erythematosus patients ( Han et al, 2021 ; Gao et al, 2022 ), which indicates that there is a causal relationship between the enrichment of the measles signaling pathway and an overactive immune response. Therefore, the enhanced measles signaling pathway in patients with EBV-HLH may reflect a serious inflammatory state.…”

Section: Discussionmentioning

confidence: 98%

Plasma Exosomal Proteomic Pattern of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis

Xie

Cao

et al. 2022

Front. Microbiol.

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Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a life-threatening syndrome, which is caused by EBV infection that is usually refractory to treatment and shows relapse. The development of new biomarkers for the early diagnosis and clinical treatment of EBV-HLH is urgently needed. Exosomes have been shown to mediate various biological processes and are ideal non-invasive biomarkers. Here, we present the differential plasma exosomal proteome of a patient with EBV-HLH before vs. during treatment and with that of his healthy twin brother. A tandem mass tag-labeled LC-MS technique was employed for proteomic detection. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses indicated that differential proteomic profiles were related to virus infection, coagulopathy, nervous system dysfunction, imbalance of immune response, and abnormal liver function. The candidate biomarkers were first identified in the patient’s plasma exosomes at different treatment and follow-up time points. Then, 14 additional EBV-HLH exosome samples were used to verify six differentially expressed proteins. The upregulation of C-reactive protein, moesin, galectin three-binding protein, and heat shock cognate 71 kDa protein and the downregulation of plasminogen and fibronectin 1 could serve as potential biomarkers of EBV-HLH. This plasma exosomal proteomic analysis provides new insights into the diagnostic and therapeutic biomarkers of EBV-HLH.

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Section: Discussionmentioning

confidence: 98%

Plasma Exosomal Proteomic Pattern of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis

Xie

Cao

et al. 2022

Front. Microbiol.

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“…also have shown IRF7 might as a key mediator in this process, a finding supported by experiments using IRF7‐deficient mice 161 . In addition, IRF7 has been identified as one of the central genes associated with SLE through exhaustive bioinformatics analysis 162,163 . SNPs located near or within IRF7 have been linked to increased susceptibility to SLE 164–166 .…”

Section: Irf7 In Cutaneous and Connective Tissue Diseasesmentioning

confidence: 80%

“…161 In addition, IRF7 has been identified as one of the central genes associated with SLE through exhaustive bioinformatics analysis. 162,163 SNPs located near or within IRF7 have been linked…”

Section: Slementioning

confidence: 99%

Insight into the role of IRF7 in skin and connective tissue diseases

Wang,

Yang,

et al. 2024

Experimental Dermatology

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Interferons (IFNs) are signalling proteins primarily involved in initiating innate immune responses against pathogens and promoting the maturation of immune cells. Interferon Regulatory Factor 7 (IRF7) plays a pivotal role in the IFNs signalling pathway. The activation process of IRF7 is incited by exogenous or abnormal nucleic acids, which is followed by the identification via pattern recognition receptors (PRRs) and the ensuing signalling cascades. Upon activation, IRF7 modulates the expression of both IFNs and inflammatory gene regulation. As a multifunctional transcription factor, IRF7 is mainly expressed in immune cells, yet its presence is also detected in keratinocytes, fibroblasts, and various dermal cell types. In these cells, IRF7 is critical for skin immunity, inflammation, and fibrosis. IRF7 dysregulation may lead to autoimmune and inflammatory skin conditions, including systemic scleroderma (SSc), systemic lupus erythematosus (SLE), Atopic dermatitis (AD) and Psoriasis. This comprehensive review aims to extensively elucidate the role of IRF7 and its signalling pathways in immune cells and keratinocytes, highlighting its significance in skin‐related and connective tissue diseases.

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“…( 67 ). Novel bioinformatics approaches have shown that these chemokines as key genes are involved in CLE ( 68 ).…”

Section: Resultsmentioning

confidence: 99%

The Genetic Landscape of Cutaneous Lupus Erythematosus

2022

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Cutaneous lupus erythematosus (CLE) is an autoimmune connective tissue disease that can exist as a disease entity or within the context of systemic lupus erythematosus (SLE). Over the years, efforts to elucidate the genetic underpinnings of CLE and SLE have yielded a wealth of information. This review examines prior studies investigating the genetics of CLE at the DNA and RNA level and identifies future research areas. In this literature review, we examined the English language literature captured within the MEDLINE and Embase databases using pre-defined search terms. First, we surveyed studies investigating various DNA studies of CLE. We identified three predominant areas of focus in HLA profiling, complement deficiencies, and genetic polymorphisms. An increased frequency of HLA-B8 has been strongly linked to CLE. In addition, multiple genes responsible for mediating innate immune response, cell growth, apoptosis, and interferon response confer a higher risk of developing CLE, specifically TREX1 and SAMHD1. There was a strong association between C2 complement deficiency and CLE. Second, we reviewed literature studying aberrations in the transcriptomes of patients with CLE. We reviewed genetic aberrations initiated by environmental insults, and we examined the interplay of dysregulated inflammatory, apoptotic, and fibrotic pathways in the context of the pathomechanism of CLE. These current learnings will serve as the foundation for further advances in integrating personalized medicine into the care of patients with CLE.

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Bioinformatics analyses of gene expression profile identify key genes and functional pathways involved in cutaneous lupus erythematosus

Cited by 6 publications

References 67 publications

Plasma Exosomal Proteomic Pattern of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis

Plasma Exosomal Proteomic Pattern of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis

Insight into the role of IRF7 in skin and connective tissue diseases

The Genetic Landscape of Cutaneous Lupus Erythematosus

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