Trial reportAmerican journal of respiratory and critical care medicine2014
Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.
Trial report in American journal of respiratory and critical care medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Genetic polymorphism of heme oxygenase 1 promoter in the occurrence and severity of chronic obstructive pulmonary disease: a meta-analysis.Journal of cellular and molecular medicine · 2017Pooled it
- DSP variants may be associated with longitudinal change in quantitative emphysema.Respiratory research · 2019Trial
- 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
- Hedgehog-interacting protein orchestrates alveologenesis and protects against bronchopulmonary dysplasia and emphysema.Science advances · 2025Article
- Lung Transcriptomics Link Emphysema to Barrier Dysfunction and Macrophage Subpopulations.American journal of respiratory and critical care medicine · 2025Article
- Breathing new life into the study of COPD with genes identified from genome-wide association studies.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Blood-based Transcriptomic and Proteomic Biomarkers of Emphysema.American journal of respiratory and critical care medicine · 2024Article
- Spatial Transcriptomics Resolve an Emphysema-Specific Lymphoid Follicle B Cell Signature in Chronic Obstructive Pulmonary Disease.American journal of respiratory and critical care medicine · 2024Article
- Deep Learning Integration of Chest Computed Tomography Imaging and Gene Expression Identifies Novel Aspects of COPD.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2023Article
- Multiomics and Multiancestry Approaches: Key Steps to Untangling the Web of Chronic Obstructive Pulmonary Disease Pathogenesis.Annals of the American Thoracic Society · 2023Article
- Animal models and mechanisms of tobacco smoke-induced chronic obstructive pulmonary disease (COPD).Journal of toxicology and environmental health. Part B, Critical reviews · 2023Review
- A spatially resolved atlas of the human lung characterizes a gland-associated immune niche.Nature genetics · 2023Article
- Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder.The Lancet. Respiratory medicine · 2022Review
- Incorporating Biomarkers in COPD Management: The Research Keeps Going.Journal of personalized medicine · 2022Review
- Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates.EBioMedicine · 2021Article
- A genome-wide association study of quantitative computed tomographic emphysema in Korean populations.Scientific reports · 2021Article
- Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop.Circulation. Cardiovascular imaging · 2021Article
- Filtering Spatial Point Patterns Using Kernel Densities.Spatial statistics · 2021Article
- Smaller Left Ventricle Size at Noncontrast CT Is Associated with Lower Mortality in COPDGene Participants.Radiology · 2020Observational
- Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.The Lancet. Respiratory medicine · 2020Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
rationaleEmphysema is a heritable trait that occurs in smokers with and without chronic obstructive pulmonary disease. Emphysema occurs in distinct pathologic patterns, but the genetic determinants of these patterns are unknown.
objectivesTo identify genetic loci associated with distinct patterns of emphysema in smokers and investigate the regulatory function of these loci.
methodsQuantitative measures of distinct emphysema patterns were generated from computed tomography scans from smokers in the COPDGene Study using the local histogram emphysema quantification method. Genome-wide association studies (GWAS) were performed in 9,614 subjects for five emphysema patterns, and the results were referenced against enhancer and DNase I hypersensitive regions from ENCODE and Roadmap Epigenomics cell lines. MEASUREMENTS AND MAIN
resultsGenome-wide significant associations were identified for seven loci. Two are novel associations (top single-nucleotide polymorphism rs379123 in MYO1D and rs9590614 in VMA8) located within genes that function in cell-cell signaling and cell migration, and five are in loci previously associated with chronic obstructive pulmonary disease susceptibility (HHIP, IREB2/CHRNA3, CYP2A6/ADCK, TGFB2, and MMP12). Five of these seven loci lay within enhancer or DNase I hypersensitivity regions in lung fibroblasts or small airway epithelial cells, respectively. Enhancer enrichment analysis for top GWAS associations (single-nucleotide polymorphisms associated at P < 5 × 10(-6)) identified multiple cell lines with significant enhancer enrichment among top GWAS loci, including lung fibroblasts.
conclusionsThis study demonstrates for the first time genetic associations with distinct patterns of pulmonary emphysema quantified by computed tomography scan. Enhancer regions are significantly enriched among these GWAS results, with pulmonary fibroblasts among the cell types showing the strongest enrichment.
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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.