Trial reportHuman genetics2013
Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.
Trial report in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 116 citations in OpenAlex.
- The molecular mechanism of ferroptosis and its role in COPD.Frontiers in medicine · 2022Pooled it
- IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.American journal of respiratory cell and molecular biology · 2015Pooled it
- A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.BMC genetics · 2015Trial
- Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide.Annals of the American Thoracic Society · 2014Trial
- Influence of FAM13A gene polymorphism and serum matrix metalloproteinases 9 and 12 on the phenotypes of chronic obstructive pulmonary disease.BMC pulmonary medicine · 2026Article
- Psychological Distress in COPD Assessed by DASS-21-R: Multivariable Regression and Bayesian Analysis Across GOLD Stages.Medical sciences (Basel, Switzerland) · 2026Observational
- Genome wide interaction study of genetic variants associated with lung function decline.Scientific reports · 2025Article
- A mediation analysis framework based on variance component to remove genetic confounding effect.Journal of human genetics · 2024Article
- Clarifying Chronic Obstructive Pulmonary Disease Genetic Associations Observed in Biobanks via Mediation Analysis of Smoking.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2024Article
- Article
- Hierarchical association of COPD to principal genetic components of biological systems.PloS one · 2023Article
- An innate contribution of human nicotinic receptor polymorphisms to COPD-like lesions.Nature communications · 2021Article
- Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.American journal of epidemiology · 2021Article
- Genetic Factors Associated with COPD Depend on the Ancestral Caucasian/Amerindian Component in the Mexican Population.Diagnostics (Basel, Switzerland) · 2021Article
- The effects of misspecification of the mediator and outcome in mediation analysis.Genetic epidemiology · 2020Article
- Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population.Journal of translational medicine · 2020Article
- Genetics of COPD.Annual review of physiology · 2020Review
- Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene.American journal of respiratory and critical care medicine · 2019Review
- Pathobiological mechanisms underlying metabolic syndrome (MetS) in chronic obstructive pulmonary disease (COPD): clinical significance and therapeutic strategies.Pharmacology & therapeutics · 2019Review
- Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 9 institutions in 3 countries.
Funding
Abstract
Cigarette smoking is the major environmental risk factor for chronic obstructive pulmonary disease (COPD). Genome-wide association studies have provided compelling associations for three loci with COPD. In this study, we aimed to estimate direct, i.e., independent from smoking, and indirect effects of those loci on COPD development using mediation analysis. We included a total of 3,424 COPD cases and 1,872 unaffected controls with data on two smoking-related phenotypes: lifetime average smoking intensity and cumulative exposure to tobacco smoke (pack years). Our analysis revealed that effects of two linked variants (rs1051730 and rs8034191) in the AGPHD1/CHRNA3 cluster on COPD development are significantly, yet not entirely, mediated by the smoking-related phenotypes. Approximately 30% of the total effect of variants in the AGPHD1/CHRNA3 cluster on COPD development was mediated by pack years. Simultaneous analysis of modestly (r (2) = 0.21) linked markers in CHRNA3 and IREB2 revealed that an even larger (~42%) proportion of the total effect of the CHRNA3 locus on COPD was mediated by pack years after adjustment for an IREB2 single nucleotide polymorphism. This study confirms the existence of direct effects of the AGPHD1/CHRNA3, IREB2, FAM13A and HHIP loci on COPD development. While the association of the AGPHD1/CHRNA3 locus with COPD is significantly mediated by smoking-related phenotypes, IREB2 appears to affect COPD independently of smoking.
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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.