Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis

Radix Astragali and Radix Angelicae Sinensis in the Treatment of Idiopathic Pulmonary Fibrosis: A Systematic Review and Meta-analysis

“…IPF is a kind of interstitial lung disease characterized as chronic, progressive and fibrosis (Allen et al, 2020). IPF cannot be cured at present.…”

Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis

“…Numerous familial studies and several larger genome-wide linkage and association studies have identified rare and common genetic variants associated with both familial interstitial pneumonia (FIP), which is characterized by familial clustering of IPF, and sporadic IPF risk (Table 1). These variants include the single nucleotide polymorphism (SNP) in the MUC5B gene [11][12][13][14][15][16][17][19][20][21]…”

“…11 Since then this MUC5B variant has been validated in multiple independent studies and is still considered to be the most significant risk, genetic or otherwise, for IPF. [12][13][14][15][16][17][19][20][21] In addition to its being the strongest risk factor for disease, the rs35705950 risk allele is also strikingly common in both healthy and IPF populations (mean allele frequency of 9% and 38%, respectively). Interestingly, IPF patients who are heterozygous carriers of the minor allele have been reported to have a paradoxical survival benefit compared to noncarriers, 41,42 although this result has not been unanimously confirmed.…”

“…[8][9][10] Indeed, the single-most validated and strongest risk factor for IPF, genetic or otherwise, is the single nucleotide polymorphism rs35705950 in the promoter region of the mucin 5B (MUC5B) gene. [11][12][13][14][15][16][17][18][19][20][21] What remains more debated in IPF pathogenesis are the roles of inflammation and immune-driven mechanisms. Initially, IPF was thought to be a disease primarily driven by chronic inflammation similar to other immunologic or autoimmune lung diseases.…”

Integrated single cell analysis of human lung fibrosis resolves cellular origins of predictive protein signatures in body fluids

“…In this work, we explore the idea that protein signatures found in bronchoalveolar lavage and plasma, both of which are accessible for longitudinal monitoring of patients, can be used to predict pathological cell state changes in the lung. We (1) derived cell state changes in human lung fibrosis at cellular resolution and (2) integrated our data with two independent but complementary datasets to establish robust differential gene expression analysis for all major cell types of the human lung and assess reproducibility across patient cohorts. We also used (3) state of the art mass spectrometry workflows to quantify the bronchoalveolar lavage and plasma proteome compositions in patients from several independent large-scale ILD cohorts.…”