Epigenome-Wide Association Studies of COPD and Lung Function: A Systematic Review
Background: Chronic Obstructive Pulmonary Disease (COPD) results from gene-environment interactions over the lifetime.
These interactions are captured by epigenetic changes, such as DNA methylation. This systematic review synthesizes evidence from epigenome-wide association studies (EWAS) related to COPD and lung function.
Methods
Systematic literature search on PubMed, Embase and CINAHL databases, identified 1947 articles that investigated epigenetic changes associated with COPD/lung function; 17 of them met our eligibility criteria from which data was manually extracted. Differentially methylated positions (DMPs) and/or annotated genes, were considered replicated if identified by ≥2 studies with a p<1 x 10-4.
Results
Ten studies profiled DNA methylation changes in blood and 7 in respiratory samples, including surgically resected lung tissue (n=3), small airways epithelial brushings (n=2), bronchoalveolar lavage (n=1) and sputum (n=1). Main results showed: (1) high variability in study design, covariates and effect sizes, which prevented a formal meta-analysis; (2) in blood samples, 51 DMPs were replicated in relation to lung function and 12 related to COPD; (3) in respiratory samples, 42 DMPs were replicated in relation to COPD but none in relation to lung function; and, (4) in COPD vs. control studies, 123 genes (2.6% of total) were shared between ≥1 blood and ≥1 respiratory sample and associated with chronic inflammation, ion transport and coagulation.
Conclusions
There is high heterogeneity across published COPD/lung function EWAS studies. A few genes (n=123; 2.6%) were replicated in blood and respiratory samples, suggesting that blood can recapitulate some changes in respiratory tissues. These findings have implications for future research.
Authors
Sandra Casas-Recasens; Raisa Cassim, Nuria Mendoza; Alvar Agusti; Caroline Lodge; Shuai Li; Dinh Bui; David Martino; Shyamali C. Dharmage, and Rosa Faner.
Read more
Noticias relacionadas
Vídeo de la Presentación de las Novedades GOLD 2026
Video de la presentación «Novedades GOLD 2026», en el que se trataron, entre otros aspectos: cambios en diagnóstico de la EPOC, tratamiento, comparativa con GESEPOC, etc.
Personalizing COPD care: phenotypes, endotypes, GETomics, the the trajectome, syndemics and treatable traits
Discover how personalized COPD care integrates phenotypes, endotypes, GETomics, trajectome, syndemics, and treatable traits to improve patient outcomes.
Próximo webinar (presencial y telemático) sobre GOLD 2026
Descubre las novedades del informe GOLD 2026 en este webinar gratuito desde la Universidad de Barcelona. Participa online o presencialmente.
Artículos
Función pulmonar
- 759689·Kilian Vellvé et Alt.- Pulmonary vascular reactivity in growth restricted fetuses using computational modelling and machine learning analysis of fetal Doppler waveforms.
- 759771·Sandra Casas-Recasens; Raisa Cassim, Nuria Mendoza; Alvar Agusti; Caroline Lodge; Shuai Li; Dinh Bui; David Martino; Shyamali C. Dharmage, and Rosa Faner.-Epigenome-Wide Association Studies of COPD and Lung Function: A Systematic Review
- 769289·Caspar Schiffers, Rosa Faner, et al. Supranormal lung function: Prevalence, associated factors and clinical manifestations across the lifespan.
- 769491·Tamara Cruz, Núria Mendoza, Gema M Lledó, Lídia Perea, Núria Albacar, Alvar Agustí, Jacobo Sellares, Oriol Sibila, Rosa Faner. Persistence of a SARS-CoV-2 T-cell response in patients with long COVID and lung sequelae after COVID-19
- 769685·Nuria Olvera et Al.- Lung Tissue Multi-Layer Network Analysis Uncovers the Molecular Heterogeneity of COPD
Imagen creada con imágenes libres de Canva Pro.