Candidate genes of idiopathic pulmonary fibrosis: current evidence and research

Zhou, Wei; Wang, Yaping

doi:10.2147/tacg.s61999

Cited by 13 publications

(6 citation statements)

References 74 publications

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“…GWAS studies have identified that alveolar surfactant, telomere length, and inflammatory genes may be involved in the risk for IPF [ 25 – 27 ]. Assessment of the SAE single-cell data showed that DKC1 and PARN, genes-related to telomere length, were expressed in subsets of the major epithelial cells populations, and a few immune-cells (Fig.…”

Section: Resultsmentioning

confidence: 99%

Cell-specific expression of lung disease risk-related genes in the human small airway epithelium

et al. 2020

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Background: The human small airway epithelium (SAE) plays a central role in the early events in the pathogenesis of most inherited and acquired lung disorders. Little is known about the molecular phenotypes of the specific cell populations comprising the SAE in humans, and the contribution of SAE specific cell populations to the risk for lung diseases. Methods: Drop-seq single-cell RNA-sequencing was used to characterize the transcriptome of single cells from human SAE of nonsmokers and smokers by bronchoscopic brushing. Results: Eleven distinct cell populations were identified, including major and rare epithelial cells, and immune/inflammatory cells. There was cell type-specific expression of genes relevant to the risk of the inherited pulmonary disorders, genes associated with risk of chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis and (non-mutated) driver genes for lung cancers. Cigarette smoking significantly altered the cell type-specific transcriptomes and disease risk-related genes. Conclusions: This data provides new insights into the possible contribution of specific lung cells to the pathogenesis of lung disorders.

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Section: Resultsmentioning

confidence: 99%

Cell-specific expression of lung disease risk-related genes in the human small airway epithelium

et al. 2020

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“…OAS1 was associated with infantile pulmonary alveolar proteinosis that resulted in dyspnoea (Cho et al 2018 ). DPP9 is a serine protease with a role in cell adhesion and is a suggested candidate for pulmonary fibrosis (Initiative 2021 ; Zhou and Wang 2016 ; Fingerlin et al 2013 ; Wang et al 2021 ). The ABO blood group locus has also shown a significant association with COVID-19 disease/severity (Wang et al 2021 ; Initiative 2021 ).…”

Section: The Genetic Susceptibility Loci For Adverse Outcomes In Covid-19mentioning

confidence: 99%

Neurotropism of SARS-CoV-2 and neurological diseases of the central nervous system in COVID-19 patients

Veleri

2021

Exp Brain Res

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The devastating COVID-19 pandemic is caused by the SARS-CoV-2 virus. It primarily affects the lung and induces acute respiratory distress leading to a decrease in oxygen supply to the cells. This lung insufficiency caused by SARS-CoV-2 virus contributes to hypoxia which can affect the brain and other organ systems. The heightened cytokine storm in COVID-19 patients leads to an immune reaction in the vascular endothelial cells that compromise the host defenses against the SARS-CoV-2 virus in various organs. The vascular endothelial cell membrane breach allows access for SARS-CoV-2 to infect multiple tissues and organs. The neurotropism of spike protein in SARS-CoV-2 rendered by furin site insertion may increase neuronal infections. These could result in encephalitis and encephalopathy. The COVID-19 patients suffered severe lung deficiency often showed effects in the brain and neural system. The early symptoms include headache, loss of smell, mental confusion, psychiatric disorders and strokes, and rarely encephalitis, which indicated the vulnerability of the nervous system to SARS-CoV-2. Infection of the brain and peripheral nervous system can lead to the dysfunction of other organs and result in multi-organ failure. This review focuses on discussing the vulnerability of the nervous system based on the pattern of expression of the receptors for the SARS-CoV-2 and the mechanisms of its cell invasion. The SARS-CoV-2 elicited immune response and host immune response evasion are further discussed. Then the effects on the nervous system and its consequences on neuro-sensory functions are discussed. Finally, the emerging information on the overall genetic susceptibility seen in COVID-19 patients and its implications for therapy outlook is discussed.

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“…Genetic studies of familial pulmonary fibrosis have been important in the identification of rare DNA sequence variants in coding and non-coding regions with significant mechanistic implications. They have identified variants in two broad categories: surfactant protein processing (SFTPA2, SFTPC, ABCA3 [11, 12]) and telomere maintenance and homeostasis machinery (TERT, TERC, TINF2, RTEL1, PARN, DKC1 [13–18]) gene mutations. These studies highlighted the central roles of endoplasmic reticulum (ER) stress and telomerase dysfunction in human pulmonary fibrosis.…”

Section: Insights From Omics Analyses Of Human Fibrotic Lungsmentioning

confidence: 99%

Fibrosis: Lessons from OMICS analyses of the human lung

Ibarra

Kaminski

2018

Matrix Biology

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In recent decades there has been a significant shift in our understanding of idiopathic pulmonary fibrosis (IPF), a progressive and lethal disorder. While initially much of the mechanistic understanding was derived from hypotheses generated from animal models of disease, in recent decades new insights derived from humans with IPF have taken precedence. This is mainly because of the establishment of large collections of IPF lung tissues and patient cohorts, and the emergence of high throughput profiling technologies collectively termed 'omics' technologies based on their shared suffix. In this review we describe impacts of 'omics' analyses of human IPF samples on our understanding of the disease. In particular, we discuss the results of genomics and transcriptomics studies, as well as proteomics, epigenomics and metabolomics. We then describe how these findings can be integrated in a modified paradigm of human idiopathic pulmonary fibrosis, that introduces the 'hallmarks of aging' as a central theme in the IPF lung. This allows resolution of all the disparate cellular and molecular features in IPF, from the central role of epithelial cells, through the dramatic phenotypic alterations observed in fibroblasts and the numerous aberrations that inflammatory cells exhibit. We end with reiterating a call for renewed efforts to collect and analyze carefully characterized human tissues, in ways that would facilitate implementation of novel technologies for high resolution single cell omics profiling.

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Candidate genes of idiopathic pulmonary fibrosis: current evidence and research

Cited by 13 publications

References 74 publications

Cell-specific expression of lung disease risk-related genes in the human small airway epithelium

Cell-specific expression of lung disease risk-related genes in the human small airway epithelium

Neurotropism of SARS-CoV-2 and neurological diseases of the central nervous system in COVID-19 patients

Fibrosis: Lessons from OMICS analyses of the human lung

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