ArticleAmerican journal of respiratory and critical care medicine2016
Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease.
Article in American journal of respiratory and critical care medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Potential drug targets for chronic obstructive pulmonary disease in the plasma proteome identified through Mendelian randomization.BMC pulmonary medicine · 2025Pooled it
- Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.The American journal of clinical nutrition · 2024Pooled 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
- Immunology in COPD and the use of combustible cigarettes and heated tobacco products.European journal of medical research · 2023Review
- Alpha-1-antitrypsin antagonizes COVID-19: a review of the epidemiology, molecular mechanisms, and clinical evidence.Biochemical Society transactions · 2023Review
- A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.American journal of physiology. Lung cellular and molecular physiology · 2021Article
- A genome wide association study for lung function in the Korean population using an exome array.The Korean journal of internal medicine · 2021Article
- The Effects of RareAmerican journal of respiratory and critical care medicine · 2020Article
- Alpha-1 Antitrypsin Mutations: Is One Too Many?American journal of respiratory and critical care medicine · 2020Article
- Integrated transcriptomic correlation network analysis identifies COPD molecular determinants.Scientific reports · 2020Article
- Obstructive lung diseases and risk of rheumatoid arthritis.Expert review of clinical immunology · 2020Review
- A Genome-Wide Association Study in Early COPD: Identification of One Major Susceptibility Loci.International journal of chronic obstructive pulmonary disease · 2020Article
- Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene.American journal of respiratory and critical care medicine · 2019Review
- Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with αScientific reports · 2019Article
- Exploring the cross-phenotype network region of disease modules reveals concordant and discordant pathways between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis.Human molecular genetics · 2019Article
- Cohort Profile: Extended Cohort for E-health, Environment and DNA (EXCEED).International journal of epidemiology · 2019Article
- 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
- Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.Nature genetics · 2019Article
- Centrilobular emphysema and coronary artery calcification: mediation analysis in the SPIROMICS cohort.Respiratory research · 2018Article
- Human Lung DNA Methylation Quantitative Trait Loci Colocalize with Chronic Obstructive Pulmonary Disease Genome-Wide Association Loci.American journal of respiratory and critical care medicine · 2018Article
Corrections and comments
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Authors and funding
40 authors at 19 institutions in 9 countries.
Funding
Abstract
rationaleChronic obstructive pulmonary disease (COPD) susceptibility is in part related to genetic variants. Most genetic studies have been focused on genome-wide common variants without a specific focus on coding variants, but common and rare coding variants may also affect COPD susceptibility.
objectivesTo identify coding variants associated with COPD.
methodsWe tested nonsynonymous, splice, and stop variants derived from the Illumina HumanExome array for association with COPD in five study populations enriched for COPD. We evaluated single variants with a minor allele frequency greater than 0.5% using logistic regression. Results were combined using a fixed effects meta-analysis. We replicated novel single-variant associations in three additional COPD cohorts. MEASUREMENTS AND MAIN
resultsWe included 6,004 control subjects and 6,161 COPD cases across five cohorts for analysis. Our top result was rs16969968 (P = 1.7 × 10(-14)) in CHRNA5, a locus previously associated with COPD susceptibility and nicotine dependence. Additional top results were found in AGER, MMP3, and SERPINA1. A nonsynonymous variant, rs181206, in IL27 (P = 4.7 × 10(-6)) was just below the level of exome-wide significance but attained exome-wide significance (P = 5.7 × 10(-8)) when combined with results from other cohorts. Gene expression datasets revealed an association of rs181206 and the surrounding locus with expression of multiple genes; several were differentially expressed in COPD lung tissue, including TUFM.
conclusionsIn an exome array analysis of COPD, we identified nonsynonymous variants at previously described loci and a novel exome-wide significant variant in IL27. This variant is at a locus previously described in genome-wide associations with diabetes, inflammatory bowel disease, and obesity and appears to affect genes potentially related to COPD pathogenesis.
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