Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review

Ding, Derui; Gao, Rong; Xue, Qianfei; Luan, Rumei; Yang, Junling

doi:10.7150/ijms.80358

Cited by 3 publications

(2 citation statements)

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“…When the UPR cannot rectify protein misfolding, it triggers the terminal UPR, leading to cell death [106]. Several researchers have reported increased markers of UPR activation in alveolar epithelial cells (AEC) type II cells in IPF [107].…”

Section: Geneticmentioning

confidence: 99%

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Idiopathic Pulmonary Fibrosis: Where do We Stand and How Far to Go?

Singh,

Ulasov,

Gupta

et al. 2024

Discovery Medicine

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Idiopathic pulmonary fibrosis is a progressive and incurable lung disease characterized by collagen deposition, alveolar inflammation, fibroblast proliferation, and the destruction of lung tissue structures. It is a rare yet severe condition with a high mortality rate, typically leading to death within 3-5 years of diagnosis. The clinical presentation of idiopathic pulmonary fibrosis (IPF) involves a gradual and substantial loss of lung function, ultimately resulting in respiratory failure. Despite more than half a century of intensive research, the origin of IPF remains a mystery. Despite its unknown etiology, several genetic and non-genetic factors have been linked to IPF. Recent significant advancements have been made in the field of IPF diagnosis and treatment. Two oral small-molecule drugs, pirfenidone and nintedanib, have recently gained approval for the treatment of IPF. Pirfenidone exhibits antifibrotic, antioxidant, and anti-inflammatory properties, while nintedanib is a tyrosine kinase inhibitor with selectivity for vascular endothelial growth factor (VEGF) receptors, prostaglandin F (PGF) receptors, and fibroblast growth factor (FGF) receptors. Both of these compounds are capable of slowing down the progression of the disease with an acceptable safety profile. This review provides a brief introduction, historical background, epidemiological insights, and an exploration of various environmental risk factors that may influence the lung microenvironment and contribute to the advancement of IPF. The review also delves into the diagnosis, signaling pathways, and ongoing clinical trials worldwide. A thorough review of the literature was conducted using PubMed and Google Scholar to gather information on various aspects of IPF. Numerous potential drugs are currently under investigation in clinical trials, and the completion of this process is crucial to the ultimate goal of finding a cure for IPF patients. The investigation of the role of genes, surfactant proteins, infectious agents, biomarkers, and epigenetic changes holds the promise of offering earlier and more accurate understanding and diagnosis of IPF. This information could be instrumental in the development of new therapeutic approaches for treating IPF and is expected to be of great interest to researchers.

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Section: Geneticmentioning

confidence: 99%

“…It has been shown that familial pulmonary fibrosis [110] is associated with mutations in telomerase genes (Table 2, Ref. [107,[111][112][113]).…”

Section: Geneticmentioning

confidence: 99%

Idiopathic Pulmonary Fibrosis: Where do We Stand and How Far to Go?

Singh,

Ulasov,

Gupta

et al. 2024

Discovery Medicine

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Common single nucleotide polymorphisms associated with idiopathic pulmonary fibrosis: a systematic review

Dhooria,

Sharma,

Bal

et al. 2024

Eur Respir Rev

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BackgroundSeveral genetic variants are associated with the risk of idiopathic pulmonary fibrosis (IPF). These have not been systematically reviewed.MethodsWe searched the PubMed, Embase and GWAS Catalog databases for studies indexed between inception and 15 January 2024 describing genetic variants associated with IPF susceptibility. We included studies describing common associated single nucleotide polymorphisms (SNPs). We excluded studies describing rare variants, non-SNP variants and those without an allelic model analysis. We recorded study type, participant characteristics, genotyping methods, IPF diagnostic criteria, the SNPs and the respective genes, odds ratios, and other details. We also searched databases for functions of the identified genes.ResultsThe primary search retrieved 2697 publications; we included 42 studies. There were nine genome-wide association/linkage studies, while 27 were candidate gene studies. The studies included 22–11 160 IPF subjects. 88 SNPs in 58 genes or loci were found associated with IPF susceptibility.MUC5Brs35705950 was the most studied SNP. Most (n=51) SNPs were in the intronic or intergenic regions; only 11 were coding sequence variants. The SNPs had odds ratios ranging from 0.27 to 7.82 for an association with IPF. Only 22 SNPs had moderate–large effects (OR >1.5 or <0.67). Only 49.1% of the associated genes have a known functional role in IPF; the role of G protein-related signalling and transcriptional regulation (zinc-finger proteins) remain unexplored.ConclusionSeveral common SNPs in over 50 genes have been found associated with IPF susceptibility. These variants may inform gene panels for future studies (PROSPERO CRD42023408912).

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Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences

Cerri,

Manzini,

Nori

et al. 2024

Medicina

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Recent advances in genetics and epigenetics have provided critical insights into the pathogenesis of both idiopathic and non-idiopathic interstitial lung diseases (ILDs). Mutations in telomere-related genes and surfactant proteins have been linked to familial pulmonary fibrosis, while variants in MUC5B and TOLLIP increase the risk of ILD, including idiopathic pulmonary fibrosis and rheumatoid arthritis-associated ILD. Epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs such as miR-21 and miR-29, regulate fibrotic pathways, influencing disease onset and progression. Although no standardized genetic panel for ILD exists, understanding the interplay of genetic mutations and epigenetic alterations could aid in the development of personalized therapeutic approaches. This review highlights the genetic and epigenetic factors driving ILD, emphasizing their potential for refining diagnosis and treatment.

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Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review

Cited by 3 publications

References 189 publications

Idiopathic Pulmonary Fibrosis: Where do We Stand and How Far to Go?

Idiopathic Pulmonary Fibrosis: Where do We Stand and How Far to Go?

Common single nucleotide polymorphisms associated with idiopathic pulmonary fibrosis: a systematic review

Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences

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