ArticleEBioMedicine2019
Identification of novel differentially methylated sites with potential as clinical predictors of impaired respiratory function and COPD.
Article in EBioMedicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-analysis.American journal of respiratory and critical care medicine · 2022Pooled it
- Pooled it
- Multicohort analysis unveils axon guidance pathways linking small for gestational age to spirometric restriction.Nature communications · 2026Article
- Expanding role of cell-free DNA for the early diagnosis and monitoring of pulmonary diseases.Chinese medical journal · 2026Review
- Sex-dependent transcriptional and epigenetic regulation of neutrophil inflammatory programs in COPD.Frontiers in immunology · 2026Article
- DNA methylation predicts lung function and pulmonary exacerbation in sputum samples from patients with cystic fibrosis.Clinical epigenetics · 2025Article
- Interactive effects of genotype with prenatal stress on DNA methylation at birth.Molecular psychiatry · 2025Article
- Data Resource Profile: Whole-Blood DNA Methylation Resource in Generation Scotland (MeGS).International journal of epidemiology · 2025Article
- Role of Epigenetics in Chronic Lung Disease.Cells · 2025Review
- Social-epigenetic mediators for racial disparities in pulmonary impairment among childhood cancer survivors.Cancer communications (London, England) · 2023Article
- Epigenetic underpinnings of inflammation: Connecting the dots between pulmonary diseases, lung cancer and COVID-19.Seminars in cancer biology · 2022Review
- Epigenome-wide association study of lung function in Latino children and youth with asthma.Clinical epigenetics · 2022Article
- Identification of epigenome-wide DNA methylation differences between carriers of APOE ε4 and APOE ε2 alleles.Genome medicine · 2021Article
- Co-methylation analysis in lung tissue identifies pathways for fetal origins of COPD.The European respiratory journal · 2020Article
- Epigenome-wide analyses identify DNA methylation signatures of dementia risk.Alzheimer's & dementia (Amsterdam, Netherlands) · 2020Article
- Variable DNA methylation of aging-related genes is associated with male COPD.Respiratory research · 2019Article
- Epigenetic targets for lung diseases.EBioMedicine · 2019Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundThe causes of poor respiratory function and COPD are incompletely understood, but it is clear that genes and the environment play a role. As DNA methylation is under both genetic and environmental control, we hypothesised that investigation of differential methylation associated with these phenotypes would permit mechanistic insights, and improve prediction of COPD. We investigated genome-wide differential DNA methylation patterns using the recently released 850 K Illumina EPIC array. This is the largest single population, whole-genome epigenetic study to date.
methodsEpigenome-wide association studies (EWASs) of respiratory function and COPD were performed in peripheral blood samples from the Generation Scotland: Scottish Family Health Study (GS:SFHS) cohort (n = 3781; 274 COPD cases and 2919 controls). In independent COPD incidence data (n = 149), significantly differentially methylated sites (DMSs; p < 3.6 × 10
findingsWe identified 28 respiratory function and/or COPD associated DMSs, which mapped to genes involved in alternative splicing, JAK-STAT signalling, and axon guidance. In prediction analyses, we observed significant improvement in discrimination between COPD cases and controls (p < .05) in independent GS:SFHS (p = .016) and LBC1936 (p = .010) datasets by adding DMSs to a clinical model.
interpretationIdentification of novel DMSs has provided insight into the molecular mechanisms regulating respiratory function and aided prediction of COPD risk. Further studies are needed to assess the causality and clinical utility of identified associations. FUND: Wellcome Trust Strategic Award 10436/Z/14/Z.
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