ArticleAmerican journal of respiratory and critical care medicine2015
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.
Article in American journal of respiratory and critical care medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 6 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
95 citing papers in PubMed, 6 syntheses or guidelines pooled it, 157 citations in OpenAlex.
- Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring.Sleep · 2023Pooled it
- Pooled it
- Receptor for advanced glycation end-products and environmental exposure related obstructive airways disease: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2019Pooled it
- Integrative genomics identifies new genes associated with severe COPD and emphysema.Respiratory research · 2018Pooled it
- Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects.American journal of respiratory cell and molecular biology · 2017Pooled it
- Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma.Human molecular genetics · 2017Pooled it
- Trial
- DSP variants may be associated with longitudinal change in quantitative emphysema.Respiratory research · 2019Trial
- Genome-Wide Association Analysis of Single-Breath DlAmerican journal of respiratory cell and molecular biology · 2019Trial
- Functional interactors of three genome-wide association study genes are differentially expressed in severe chronic obstructive pulmonary disease lung tissue.Scientific reports · 2017Trial
- Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.Respiratory research · 2026Article
- PHLDA1 knockdown exacerbates emphysema in COPD by attenuating proliferation of alveolar type II cells via modulating GLI1 nuclear translocation.Cellular and molecular life sciences : CMLS · 2026Article
- HHIP's dynamic role in epithelial wound healing reveals a potential mechanism of COPD susceptibility.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Quantitative CT-derived lobar inter-tapering as a candidate imaging feature associated with airway-predominant non-emphysematous COPD.Frontiers in medicine · 2026Article
- Global, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.Nature medicine · 2026Article
- Chronic Hypobaric Hypoxia at High Altitudes Aggravates Chronic Obstructive Pulmonary Disease in Mice.Journal of inflammation research · 2026Article
- Lung NR3C1Communications biology · 2025Article
- HHIP protein interactions in lung cells provide insight into COPD pathogenesis.Human molecular genetics · 2025Article
- Automated CT-based measurements of radial and longitudinal expansion of airways due to breathing-related lung volume change.Medical physics · 2025Article
- Biological pathways and mechanisms linking COPD and cardiovascular disease.Therapeutic advances in chronic disease · 2025Review
35 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 4 countries.
Funding
Abstract
rationaleChronic obstructive pulmonary disease (COPD) is defined by the presence of airflow limitation on spirometry, yet subjects with COPD can have marked differences in computed tomography imaging. These differences may be driven by genetic factors. We hypothesized that a genome-wide association study (GWAS) of quantitative imaging would identify loci not previously identified in analyses of COPD or spirometry. In addition, we sought to determine whether previously described genome-wide significant COPD and spirometric loci were associated with emphysema or airway phenotypes.
objectivesTo identify genetic determinants of quantitative imaging phenotypes.
methodsWe performed a GWAS on two quantitative emphysema and two quantitative airway imaging phenotypes in the COPDGene (non-Hispanic white and African American), ECLIPSE (Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints), NETT (National Emphysema Treatment Trial), and GenKOLS (Genetics of COPD, Norway) studies and on percentage gas trapping in COPDGene. We also examined specific loci reported as genome-wide significant for spirometric phenotypes related to airflow limitation or COPD. MEASUREMENTS AND MAIN
resultsThe total sample size across all cohorts was 12,031, of whom 9,338 were from COPDGene. We identified five loci associated with emphysema-related phenotypes, one with airway-related phenotypes, and two with gas trapping. These loci included previously reported associations, including the HHIP, 15q25, and AGER loci, as well as novel associations near SERPINA10 and DLC1. All previously reported COPD and a significant number of spirometric GWAS loci were at least nominally (P < 0.05) associated with either emphysema or airway phenotypes.
conclusionsGenome-wide analysis may identify novel risk factors for quantitative imaging characteristics in COPD and also identify imaging features associated with previously identified lung function loci.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.