Epigenetics and sarcoidosis

Konigsberg, Iain R; Maier, Lisa A.; Yang, Ivana V.

doi:10.1183/16000617.0076-2021

Cited by 9 publications

(4 citation statements)

References 149 publications

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“…The generally accepted hypothesis states that the formation of the sarcoid granulomas results from a response to so far unknown foreign antigen/pathogen. It is supported by other granulomatous diseases with known aetiological agents, such as tuberculosis, chronic beryllium diseases or occupational diseases [48][49][50].…”

Section: Pathophysiology Of Pulmonary Sarcoidosismentioning

confidence: 99%

The Immune Response in the Pathophysiology of Pulmonary Diseases

Navratilova,

Kominkova,

Petrek

2024

Physiology

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Chronic obstructive pulmonary disease (COPD) is the world’s third leading cause of death. The number of patients with asthma is increasing in developed countries. We review here the main features of pathophysiology in these obstructive diseases. Tobacco smoke and other air pollution stimulate chronic inflammation in COPD. Asthma is a type 1 hypersensitivity that is a response to various allergens. In both pathologies, chronic inflammatory response leads to airway remodeling, significantly impacting lung function and a patient’s daily activity. Besides imaging techniques, a critical diagnostic tool is a pulmonary function test with characteristic obstructive patterns and respiratory symptoms. Sarcoidosis is discussed as an example of a restrictive disease. Finally, we shortly highlight the direction of current research.

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Section: Pathophysiology Of Pulmonary Sarcoidosismentioning

confidence: 99%

The Immune Response in the Pathophysiology of Pulmonary Diseases

Navratilova,

Kominkova,

Petrek

2024

Physiology

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“…The most comprehensively studied epigenetic modification is the addition of a methyl group to cytosines next to guanines in the DNA molecule ( i.e. DNA methylation in CpG sites), but modifications of histone tails, non-coding RNAs such as microRNAs and long non-coding RNAs are also part of the epigenetic processes [ 107 – 109 ]. Epigenetic modifications have not yet been explored in bronchiectasis, but COPD studies have shown that mild-to-moderate COPD presents a smoking-related epigenetic signature that is absent in severe COPD [ 110 ], and recent studies have identified some shared epigenetics differences between blood and lung [ 111 ].…”

Section: From Pathophysiology To Multiomicsmentioning

confidence: 99%

Pathophysiology and genomics of bronchiectasis

Perea,

Faner,

Chalmers

et al. 2024

Eur Respir Rev

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Bronchiectasis is a complex and heterogeneous inflammatory chronic respiratory disease with an unknown cause in around 30–40% of patients. The presence of airway infection together with chronic inflammation, airway mucociliary dysfunction and lung damage are key components of the vicious vortex model that better describes its pathophysiology. Although bronchiectasis research has significantly increased over the past years and different endotypes have been identified, there are still major gaps in the understanding of the pathophysiology. Genomic approaches may help to identify new endotypes, as has been shown in other chronic airway diseases, such as COPD.Different studies have started to work in this direction, and significant contributions to the understanding of the microbiome and proteome diversity have been made in bronchiectasis in recent years. However, the systematic application of omics approaches to identify new molecular insights into the pathophysiology of bronchiectasis (endotypes) is still limited compared with other respiratory diseases.Given the complexity and diversity of these technologies, this review describes the key components of the pathophysiology of bronchiectasis and how genomics can be applied to increase our knowledge, including the study of new techniques such as proteomics, metabolomics and epigenomics. Furthermore, we propose that the novel concept of trained innate immunity, which is driven by microbiome exposures leading to epigenetic modifications, can complement our current understanding of the vicious vortex. Finally, we discuss the challenges, opportunities and implications of genomics application in clinical practice for better patient stratification into new therapies.

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“…However, 30% of patients still develop a chronic course, and persistent granulomatous in ammation may lead to irreversible pulmonary brosis (PF) [11][12][13][14]. The occurrence and development process of brotic pulmonary sarcoidosis (FPS) is very complex [15], and its pathogenesis is not yet clear, lacking effective treatment methods [16]. The prognosis of FPS primarily depends on the degree of brosis, severity of functional impairment, and the development of pulmonary hypertension (PH), along with the in uence of various complications [17][18][19].…”

Section: Introductionmentioning

confidence: 99%

Bibliometric and Visual Analysis of Fibrotic Pulmonary Sarcoidosis

WEI,

Fang,

Zhao

et al. 2024

Preprint

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Background Fibrotic pulmonary sarcoidosis (FPS) has a high mortality rate, but its pathogenesis is not clear and effective treatments are lackings. In recent years, numerous literature reviews have been published from various perspectives on FPS. However, there is still a lack of visual analysis and summary of its research status, hotspots, and development trends. Therefore, to fill this knowledge gap, this study conducted a bibliometric and visual analysis of the published literature on FPS. Methods A total of 962 relevant publications were extracted from the Web of Science Core Collection. CiteSpace was used to conduct a bibliometric analysis and draw knowledge maps from five dimensions: publication years and document types, scientific collaboration networks (authors, countries/territories and institutions), journals, references and keywords. Results Current FPS research exhibits steady growth, capturing widespread attention. Noteworthy authors include Bargagli E, Baughman RP, Valeyre D, Raghu G, and Hunninghake GW. USA, Italy, Germany, England, and Netherlands demonstrate relatively mature research in this field. Three influential research institutions, namely Royal Brompton Hospital (England), Imperial College London (England) and University of California System (USA), stand out in this field. Important journals include American Journal of Respiratory and Critical Care Medicine, European Respiratory Journal, Chest, Thorax and Respiratory Medicine. These journals primarily focus on the evaluation, clinical and immunological characteristics, and treatment of FPS. Current hot research topics mainly include FPS-relevant diseases (interstitial lung disease, idiopathic pulmonary fibrosis and pulmonary fibrosis), complications (pulmonary hypertension, chronic obstructive pulmonary disease, and lung cancer), commonly used treatments (bronchoalveolar lavage), and biomarkers (YKL-40). Diagnosis, treatment (clinical trial drug studies), cardiac sarcoidosis, and quality of life are currently in an explosive stage and will be the focus of future research. Conclusion This research provides useful information for the study of FPS, including potential collaborators, research status of various countries and institutions, distribution and knowledge structure of journals, as well as research status and hotspots, providing a reference for future broader and deeper research.

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Epigenetics and sarcoidosis

Cited by 9 publications

References 149 publications

The Immune Response in the Pathophysiology of Pulmonary Diseases

The Immune Response in the Pathophysiology of Pulmonary Diseases

Pathophysiology and genomics of bronchiectasis

Bibliometric and Visual Analysis of Fibrotic Pulmonary Sarcoidosis

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