ArticleAmerican journal of respiratory and critical care medicine2006
Genetic association analysis of functional impairment in chronic obstructive pulmonary disease.
Article in American journal of respiratory and critical care medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 5 of them syntheses 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.
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Who cites it
53 citing papers in PubMed, 5 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Pooled it
- Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.The Lancet. Respiratory medicine · 2014Pooled it
- A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.Human molecular genetics · 2012Pooled it
- Pooled it
- Genetic variation and gene expression in antioxidant related enzymes and risk of COPD: a systematic review.Thorax · 2008Pooled it
- Effect of heme oxygenase-1 polymorphisms on lung function and gene expression.BMC medical genetics · 2011Trial
- SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development.American journal of respiratory and critical care medicine · 2011Trial
- Trial
- Genetic determinants of emphysema distribution in the national emphysema treatment trial.American journal of respiratory and critical care medicine · 2007Trial
- Analysis of the Relationship BetweenBiomedicines · 2025Article
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- LTBP4 in Health and Disease.Genes · 2021Review
- The Lung Elastin Matrix Undergoes Rapid Degradation Upon Adult Loss ofFrontiers in cell and developmental biology · 2021Article
- Elastin in lung development and disease pathogenesis.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Barriers to inhaled gene therapy of obstructive lung diseases: A review.Journal of controlled release : official journal of the Controlled Release Society · 2016Review
- Article
- Latent TGF-β-binding proteins.Matrix biology : journal of the International Society for Matrix Biology · 2015Review
- Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy.Human molecular genetics · 2014Article
- Sestrin-2, a repressor of PDGFRβ signalling, promotes cigarette-smoke-induced pulmonary emphysema in mice and is upregulated in individuals with COPD.Disease models & mechanisms · 2013Article
- LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.Annals of neurology · 2013Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 1 country.
Funding
Abstract
rationalePatients with severe chronic obstructive pulmonary disease (COPD) may have varying levels of disability despite similar levels of lung function. This variation may reflect different COPD subtypes, which may have different genetic predispositions.
objectivesTo identify genetic associations for COPD-related phenotypes, including measures of exercise capacity, pulmonary function, and respiratory symptoms.
methodsIn 304 subjects from the National Emphysema Treatment Trial, we genotyped 80 markers in 22 positional and/or biologically plausible candidate genes. Regression models were used to test for association, using a test-replication approach to guard against false-positive results. For significant associations, effect estimates were recalculated using the entire cohort. Positive associations with dyspnea were confirmed in families from the Boston Early-Onset COPD Study.
resultsThe test-replication approach identified four genes-microsomal epoxide hydrolase (EPHX1), latent transforming growth factor-beta binding protein-4 (LTBP4), surfactant protein B (SFTPB), and transforming growth factor-beta1 (TGFB1)-that were associated with COPD-related phenotypes. In all subjects, single-nucleotide polymorphisms (SNPs) in EPHX1 (p < or = 0.03) and in LTBP4 (p < or = 0.03) were associated with maximal output on cardiopulmonary exercise testing. Markers in LTBP4 (p < or = 0.05) and SFTPB (p = 0.005) were associated with 6-min walk test distance. SNPs in EPHX1 were associated with carbon monoxide diffusing capacity (p < or = 0.04). Three SNPs in TGFB1 were associated with dyspnea (p < or = 0.002), one of which replicated in the family study (p = 0.02).
conclusionsPolymorphisms in several genes seem to be associated with COPD-related traits other than FEV(1). These associations may identify genes in pathways important for COPD pathogenesis.
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Registered trials
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