Genetics and genomics of pulmonary fibrosis: charting the molecular landscape and shaping precision medicine

A Adegunsoye, JA Kropski, J Behr… - American Journal of …, 2024 - atsjournals.org
Recent genetic and genomic advancements have elucidated the complex etiology of
idiopathic pulmonary fibrosis (IPF) and other progressive fibrotic interstitial lung diseases …

Combined pulmonary fibrosis and Emphysema: comparative evidence on a Complex Condition

D Calaras, AG Mathioudakis, Z Lazar, A Corlateanu - Biomedicines, 2023 - mdpi.com
Combined pulmonary fibrosis and emphysema (CPFE) is a clinical syndrome characterized
by upper lobe emphysema and lower lobe fibrosis manifested by exercise hypoxemia …

A polygenic risk score for idiopathic pulmonary fibrosis and interstitial lung abnormalities

M Moll, AL Peljto, JS Kim, H Xu, CL Debban… - American Journal of …, 2023 - atsjournals.org
Rationale: In addition to rare genetic variants and the MUC5B locus, common genetic
variants contribute to idiopathic pulmonary fibrosis (IPF) risk. The predictive power of …

Activation of CD8+ T Cells in Chronic Obstructive Pulmonary Disease Lung

AB Villaseñor-Altamirano, D Jain, Y Jeong… - American Journal of …, 2023 - atsjournals.org
Rationale: Despite the importance of inflammation in chronic obstructive pulmonary disease
(COPD), the immune cell landscape in the lung tissue of patients with mild-moderate …

Leukemia inhibitory factor (LIF) receptor amplifies pathogenic activation of fibroblasts in lung fibrosis

HN Nguyen, Y Jeong, Y Kim, M Kamiya, Y Kim… - Proceedings of the …, 2024 - pnas.org
Fibrosis drives end-organ damage in many diseases. However, clinical trials targeting
individual upstream activators of fibroblasts, such as TGFβ, have largely failed. Here, we …

Sex-biased regulation of extracellular matrix genes in chronic obstructive pulmonary disease

CM Lopes-Ramos, KH Shutta, MH Ryu… - American Journal of …, 2025 - atsjournals.org
Chronic obstructive pulmonary disease (COPD) often develops at an earlier age in women
than in men, with worse respiratory symptoms despite lower smoking exposure. However …

Clonal somatic mutations in chronic lung diseases are associated with reduced lung function

JH Yun, MAW Khan, A Ghosh, BD Hobbs… - American Journal of …, 2023 - atsjournals.org
Rationale: Constantly exposed to the external environment and mutagens such as tobacco
smoke, human lungs have one of the highest somatic mutation rates among all human …

Lung Transcriptomics Link Emphysema to Barrier Dysfunction and Macrophage Subpopulations

R Lu, A Gregory, R Suryadevara, Z Xu… - American Journal of …, 2025 - atsjournals.org
Rationale: Although many studies have examined gene expression in lung tissue, the gene
regulatory processes underlying emphysema are still not well understood. Finding efficient …

Colocalization analysis of 3′ UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function

A Saferali, W Kim, Z Xu, RP Chase… - Human Molecular …, 2024 - academic.oup.com
While many disease-associated single nucleotide polymorphisms (SNPs) are expression
quantitative trait loci (eQTLs), a large proportion of genome-wide association study (GWAS) …

Variability in MUC5B Expression Is Dependent on Genotype and Endotype in Idiopathic Pulmonary Fibrosis

AJ Ghosh, M Moll, BD Hobbs, J Cardwell… - American Journal of …, 2023 - atsjournals.org
Supported by NIH grants T32HL007427 and K08HL159318 (MM); NIH grants
K08HL136928, U01HL089856, and R01HL155749 and grant support from Bayer (BDH); US …