SynthesisRespiratory research2018
Integrative genomics identifies new genes associated with severe COPD and emphysema.
Synthesis in Respiratory research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 20 papers.
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.
A Multicentre 3 Year Longitudinal Prospective Study to Identify Novel Endpoints and Compare These With Forced Expiratory Volume in 1 Second (FEV1) for Their Ability to Measure and Predict COPD Severity and Its Progression Over Time
Genetic Epidemiology of Chronic Obstructive Pulmonary Disease (COPDGene)
Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- DCBLD1 Promotes Lung Tumorigenesis by Inhibiting PTP1B Dephosphorylation of EGFR.International journal of biological sciences · 2026Article
- From locus to gene: causal inference and experimental validation prioritize PSMA4 as a candidate target in lung adenocarcinoma.American journal of cancer research · 2026Article
- MicroRNAs as promising drug delivery target to ameliorate chronic obstructive pulmonary disease using nano-carriers: a comprehensive review.Molecular and cellular biochemistry · 2025Review
- Dysanapsis Genetic Risk Predicts Lung Function Across the Lifespan.American journal of respiratory and critical care medicine · 2024Article
- A scoping review of statistical methods to investigate colocalization between genetic associations and microRNA expression in osteoarthritis.Osteoarthritis and cartilage open · 2024Article
- Transcriptome-Wide Association Study of Idiopathic Pulmonary Fibrosis Survival IdentifiesAmerican journal of respiratory and critical care medicine · 2024Article
- 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
- Mendelian randomization analysis identifies druggable genes and drugs repurposing for chronic obstructive pulmonary disease.Frontiers in cellular and infection microbiology · 2024Article
- A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort.Cancers · 2023Article
- Article
- Artificial Intelligence Techniques to Predict the Airway Disorders Illness: A Systematic Review.Archives of computational methods in engineering : state of the art reviews · 2023Review
- A statistical physics approach for disease module detection.Genome research · 2022Article
- Recent evidence from omic analysis for redox signalling and mitochondrial oxidative stress in COPD.Journal of inflammation (London, England) · 2022Review
- Article
- An Integrative Transcriptomic and Metabolomic Study Revealed That Melatonin Plays a Protective Role in Chronic Lung Inflammation by Reducing Necroptosis.Frontiers in immunology · 2021Article
- Recent advances in chronic obstructive pulmonary disease pathogenesis: from disease mechanisms to precision medicine.The Journal of pathology · 2020Review
- Assessing pleiotropy and mediation in genetic loci associated with chronic obstructive pulmonary disease.Genetic epidemiology · 2019Article
- Identifying Chronic Obstructive Pulmonary Disease Genes: Shining the Light on Dark DNA.American journal of respiratory cell and molecular biology · 2019Article
- Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.Nature genetics · 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
8 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundGenome-wide association studies have identified several genetic risk loci for severe chronic obstructive pulmonary disease (COPD) and emphysema. However, these studies do not fully explain disease heritability and in most cases, fail to implicate specific genes. Integrative methods that combine gene expression data with GWAS can provide more power in discovering disease-associated genes and give mechanistic insight into regulated genes.
methodsWe applied a recently described method that imputes gene expression using reference transcriptome data to genome-wide association studies for two phenotypes (severe COPD and quantitative emphysema) and blood and lung tissue gene expression datasets. We further tested the potential causality of individual genes using multi-variant colocalization.
resultsWe identified seven genes significantly associated with severe COPD, and five genes significantly associated with quantitative emphysema in whole blood or lung. We validated results in independent transcriptome databases and confirmed colocalization signals for PSMA4, EGLN2, WNT3, DCBLD1, and LILRA3. Three of these genes were not located within previously reported GWAS loci for either phenotype. We also identified genetically driven pathways, including those related to immune regulation.
conclusionsAn integrative analysis of GWAS and gene expression identified novel associations with severe COPD and quantitative emphysema, and also suggested disease-associated genes in known COPD susceptibility loci.
trial registrationNCT00608764 , Registry: ClinicalTrials.gov, Date of Enrollment of First Participant: November 2007, Date Registered: January 28, 2008 (retrospectively registered); NCT00292552 , Registry: ClinicalTrials.gov, Date of Enrollment of First Participant: December 2005, Date Registered: February 14, 2006 (retrospectively registered).
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What Socratic holds
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 Socratic graph.