Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.

paper Cited Public

Authors: Cho, Michael H; McDonald, Merry-Lynn N; Zhou, Xiaobo; Mattheisen, Manuel; Castaldi, Peter J; Hersh, Craig P; Demeo, Dawn L; Sylvia, Jody S; Ziniti, John; Laird, Nan M; Lange, Christoph; Litonjua, Augusto A; Sparrow, David; Casaburi, Richard; Barr, R Graham; Regan, Elizabeth A; Make, Barry J; Hokanson, John E; Lutz, Sharon; Dudenkov, Tanda Murray; Farzadegan, Homayoon; Hetmanski, Jacqueline B; Tal-Singer, Ruth; Lomas, David A; Bakke, Per; Gulsvik, Amund; Crapo, James D; Silverman, Edwin K; Beaty, Terri H; NETT Genetics, ICGN, ECLIPSE and COPDGene Investigators
Year: 2014
Journal: The Lancet. Respiratory medicine
PMID: 24621683
DOI: 10.1016/S2213-2600(14)70002-5
PMCID: PMC4176924

BACKGROUND: The genetic risk factors for susceptibility to chronic obstructive pulmonary disease (COPD) are still largely unknown. Additional genetic variants are likely to be identified by genome-wide association studies in larger cohorts or specific subgroups. We sought to identify risk loci for moderate to severe and severe COPD with data from several cohort studies. METHODS: We combined genome-wide association analysis data from participants in the COPDGene study (non-Hispanic white and African-American ethnic origin) and the ECLIPSE, NETT/NAS, and Norway GenKOLS studies (self-described white ethnic origin). We did analyses comparing control individuals with individuals with moderate to severe COPD and with a subset of individuals with severe COPD. Single nucleotide polymorphisms yielding a p value of less than 5 × 10(-7) in the meta-analysis at loci not previously described were genotyped in individuals from the family-based ICGN study. We combined results in a joint meta-analysis (threshold for significance p<5 × 10(-8)). FINDINGS: Analysis of 6633 individuals with moderate to severe COPD and 5704 control individuals confirmed association at three known loci: CHRNA3 (p=6·38 × 10(-14)), FAM13A (p=1·12 × 10(-14)), and HHIP (p=1·57 × 10(-12)). We also showed significant evidence of association at a novel locus near RIN3 (p=5·25 × 10(-9)). In the overall meta-analysis (ie, including data from 2859 ICGN participants), the association with RIN3 remained significant (p=5·4 × 10(-9)). 3497 individuals were included in our analysis of severe COPD. The effect estimates for the loci near HHIP and CHRNA3 were significantly stronger in severe disease than in moderate to severe disease (p<0·01). We also identified associations at two additional loci: MMP12 (overall joint meta-analysis p=2·6 × 10(-9)) and TGFB2 (overall joint meta-analysis p=8·3 × 10(-9)). INTERPRETATION: We have confirmed associations with COPD at three known loci and identified three new genome-wide significant associations. Genetic variants other than in α-1 antitrypsin increase the risk of COPD. FUNDING: US National Heart, Lung, and Blood Institute; the Alpha-1 Foundation; the COPD Foundation through contributions from AstraZeneca, Boehringer Ingelheim, Novartis, and Sepracor; GlaxoSmithKline; Centers for Medicare and Medicaid Services; Agency for Healthcare Research and Quality; and US Department of Veterans Affairs.

#	Section	Preview
0	Introduction	Chronic obstructive pulmonary disease (COPD), characterized by persistent and usually progressive…
1	Introduction	We recently completed genome-wide genotyping in COPDGene, a large, genetic epidemiology study of…
2	Introduction	Genome-wide association analyses in COPD to date have included subjects with mild or moderately…
3	Methods	COPDGene (NCT00608764) is a large, multicenter study designed to investigate the genetic and…
4	Methods	In all cohorts, ‘moderate-to-severe’ cases had GOLD Grade 2-4 COPD (moderate, severe, and very…
5	Methods	Controls had normal spirometry with a history of cigarette smoking. For the analysis of ‘severe’…
6	Methods	Results yielding a P value threshold of < 5×10−7 at loci not previously described7 in the…
7	Methods	Differences in odds ratios between severe cases versus controls and between all cases…
8	Methods	Additional analyses using the meta-analysis results included gene-based testing using VEGAS42 and…
9	Role of the funding source	GlaxoSmithKline was involved in study design and data collection for the ECLIPSE, GenKOLS (Norway),…
10	Results	Results from the GWAS of moderate-to-severe COPD in the COPDGene non-Hispanic whites and…
11	Results	The combined GWAS of moderate-to-severe COPD included COPDGene non-Hispanic whites, COPDGene…
12	Results	We identified one novel additional locus with P < 5×10− at 14q32; the top SNP at this locus was…
13	Results	The analysis of severe COPD reduced the number of cases to 3,497, while the number of controls…
14	Results	We also identified two new genome-wide significant loci in the analysis of severe COPD versus…
15	Results	To determine whether gene expression levels of these two genes not previously described in…
16	Results	While the definitions of cases and controls within each study – based on GOLD criteria – were…
17	Results	We next sought to determine whether there was evidence for secondary associations at each described…
18	Results	The number of loci identified as influencing risk to COPD to date is modest, despite the relatively…
19	Results	studies, the effect sizes of these identified loci are relatively small; however one subject may…

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Proteomic insights into COPD pathogenesis and therapeutic targets: a causal analysis of circulating proteins.	Luo M et al.	—	2025	→
Ras and Rab interactor 3 as a prognostic biomarker and its impact on immune cell infiltration in cancer.	Xu X et al.	—	2025	→
A novel phenotype imputation method with copula model.	Zhang J et al.	—	2024	→
Association of gut microbiome with COPD in Japanese male residents: the SESSA study.	Kawashima S et al.	—	2024	→
Association of <i>PHACTR1</i> with Coronary Artery Calcium Differs by Sex and Cigarette Smoking.	Voorhies K et al.	—	2024	→
Associations of prior pulmonary tuberculosis with the incident COPD: a prospective cohort study.	Zeng Z et al.	—	2024	→
Breathing new life into the study of COPD with genes identified from genome-wide association studies.	Werder RB et al.	—	2024	→
ceRNA Network Analysis Reveals Potential Key miRNAs and Target Genes in COVID-19-Related Chronic Obstructive Pulmonary Disease.	Zhang L et al.	—	2024	→
Effect of Macronutrients or Micronutrients Supplementation on Nutritional Status, Physical Functional Capacity and Quality of Life in Patients with COPD: A Systematic Review and Meta-Analysis.	Lattanzi G et al.	—	2024	→
Exploring Molecular Mechanisms and Biomarkers in COPD: An Overview of Current Advancements and Perspectives.	Li CL et al.	—	2024	→
Genetics of chronic respiratory disease.	Sayers I et al.	—	2024	→
Identifying key genes in COPD risk via multiple population data integration and gene prioritization.	Zainab A et al.	—	2024	→
Modelling bronchial epithelial-fibroblast cross-talk in idiopathic pulmonary fibrosis (IPF) using a human-derived in vitro air liquid interface (ALI) culture.	Barron SL et al.	—	2024	→
Molecular Characterization of the Distal Lung: Novel Insights from Chronic Obstructive Pulmonary Disease Omics.	Castaldi PJ et al.	—	2024	→
Pathophysiology and genomics of bronchiectasis.	Perea L et al.	—	2024	→
Proteomic associations with forced expiratory volume: a Mendelian randomisation study.	Axelsson GT et al.	—	2024	→
Pulmonary Epithelium Cell Fate Determination: Chronic Obstructive Pulmonary Disease, Lung Cancer, or Both.	Xu Y et al.	—	2024	→
Role of epigenetic mechanisms in the pathogenesis of chronic respiratory diseases and response to inhaled exposures: From basic concepts to clinical applications.	Jurkowska RZ	—	2024	→
scMoresDB: A comprehensive database of single-cell multi-omics data for human respiratory system.	Chen K et al.	—	2024	→
Transcriptomic Module Discovery of Diarrhea-Predominant Irritable Bowel Syndrome: A Causal Network Inference Approach.	Guido D et al.	—	2024	→
Unsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction.	Yun T et al.	—	2024	→
A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank.	Sinkala M et al.	—	2023	→
AKT Phosphorylates FAM13A and Promotes Its Degradation via CUL4A/DDB1/DCAF1 E3 Complex.	Gong L et al.	—	2023	→
Animal models: An essential tool to dissect the heterogeneity of chronic obstructive pulmonary disease.	Jiang J et al.	—	2023	→
Association of a <i>FAM13A</i> variant with interstitial lung disease in Japanese rheumatoid arthritis.	Higuchi T et al.	—	2023	→
A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases.	Liu W et al.	—	2023	→
Biological and Genetic Mechanisms of COPD, Its Diagnosis, Treatment, and Relationship with Lung Cancer.	Czarnecka-Chrebelska KH et al.	—	2023	→
Club Cell Secretory Protein in Lung Disease: Emerging Concepts and Potential Therapeutics.	Martinu T et al.	—	2023	→
De novo discovery of traits co-occurring with chronic obstructive pulmonary disease.	Golovina E et al.	—	2023	→
Endotyping COPD: hypoxia-inducible factor-2 as a molecular "switch" between the vascular and airway phenotypes?	Myronenko O et al.	—	2023	→
High-resolution transcriptomic and epigenetic profiling identifies novel regulators of COPD.	Schwartz U et al.	—	2023	→
Large scale proteomic studies create novel privacy considerations.	Hill AC et al.	—	2023	→
Macrophage polarization involved the inflammation of chronic obstructive pulmonary disease by S1P/HDAC1 signaling.	Zhang M et al.	—	2023	→
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.	Shrine N et al.	—	2023	→
Multiomics and Multiancestry Approaches: Key Steps to Untangling the Web of Chronic Obstructive Pulmonary Disease Pathogenesis.	Radder JE et al.	—	2023	→
NetSHy: network summarization via a hybrid approach leveraging topological properties.	Vu T et al.	—	2023	→
Predicting Development of Chronic Obstructive Pulmonary Disease and its Risk Factor Analysis.	Lee S et al.	—	2023	→
Pulmonary inflammation and fibroblast immunoregulation: from bench to bedside.	Ghonim MA et al.	—	2023	→
Sex-Specific Genetic Determinants of Asthma-COPD Phenotype and COPD in Middle-Aged and Older Canadian Adults: An Analysis of CLSA Data.	Odimba U et al.	—	2023	→
Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts.	Ngo D et al.	—	2023	→
The role of transforming growth factor-β2 in cigarette smoke-induced lung inflammation and injury.	Ko HK et al.	—	2023	→
Twenty years of changes in the definition of early chronic obstructive pulmonary disease.	Chen D et al.	—	2023	→
Association of clonal hematopoiesis with chronic obstructive pulmonary disease.	Miller PG et al.	—	2022	→
A statistical physics approach for disease module detection.	Wang XW et al.	—	2022	→
Connectivity in eQTL networks dictates reproducibility and genomic properties.	Gaynor SM et al.	—	2022	→
GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing.	Mathur R et al.	—	2022	→
Genetic Determinants in Airways Obstructive Diseases: The Case of Asthma Chronic Obstructive Pulmonary Disease Overlap.	Saferali A et al.	—	2022	→
Genetic Regulation of Vertebrate Forebrain Development by Homeobox Genes.	Leung RF et al.	—	2022	→
Genetic Variants Associated with Chronic Obstructive Pulmonary Disease Risk: Cumulative Epidemiological Evidence from Meta-Analyses and Genome-Wide Association Studies.	Liu C et al.	—	2022	→
Hedgehog-interacting protein acts in the habenula to regulate nicotine intake.	Caligiuri SPB et al.	—	2022	→
Identification of exercise-regulated genes in mice exposed to cigarette smoke.	Aakerøy L et al.	—	2022	→
Impaired Alveolar Re-Epithelialization in Pulmonary Emphysema.	Lin CR et al.	—	2022	→
Mechanisms of Lung Damage and Development of COPD Due to Household Biomass-Smoke Exposure: Inflammation, Oxidative Stress, MicroRNAs, and Gene Polymorphisms.	Ortiz-Quintero B et al.	—	2022	→
Protein interaction networks provide insight into fetal origins of chronic obstructive pulmonary disease.	Röhl A et al.	—	2022	→
Ras and Rab Interactor 3: From Cellular Mechanisms to Human Diseases.	Shen R et al.	—	2022	→
Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.	Ahmed WU et al.	—	2022	→
An innate contribution of human nicotinic receptor polymorphisms to COPD-like lesions.	Routhier J et al.	—	2021	→
Benefits of Angiotensin-Converting Enzyme Inhibitors and Angiotensin-Receptor Blockers on Progression of Emphysema and Lung Function Decline.	Bertels X et al.	—	2021	→
Chr15q25 Genetic Variant rs16969968 Alters Cell Differentiation in Respiratory Epithelia.	Diabasana Z et al.	—	2021	→
Connecting COPD GWAS Genes: FAM13A Controls TGFβ2 Secretion by Modulating AP-3 Transport.	Gong L et al.	—	2021	→
DNA Methylation at Birth is Associated with Childhood Serum Immunoglobulin E Levels.	Han L et al.	—	2021	→
Genetic loci for lung function in Japanese adults with adjustment for exhaled nitric oxide levels as airway inflammation indicator.	Yamada M et al.	—	2021	→
Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease.	Lakshman Kumar P et al.	—	2021	→
Hedgehog interacting protein-expressing lung fibroblasts suppress lymphocytic inflammation in mice.	Yun JH et al.	—	2021	→
Identification of Potential Key Genes in the Pathogenesis of Chronic Obstructive Pulmonary Disease Through Bioinformatics Analysis.	Guan Q et al.	—	2021	→
Integrated genetic and epigenetic analyses uncover MSI2 association with allergic inflammation.	Kim KW et al.	—	2021	→
Proteomic Signatures of Lifestyle Risk Factors for Cardiovascular Disease: A Cross-Sectional Analysis of the Plasma Proteome in the Framingham Heart Study.	Corlin L et al.	—	2021	→
Reactive Oxygen Species and Antioxidative Defense in Chronic Obstructive Pulmonary Disease.	Taniguchi A et al.	—	2021	→
Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors.	Zhang J et al.	—	2021	→
The AGE-RAGE Axis and RAGE Genetics in Chronic Obstructive Pulmonary Disease.	Sharma A et al.	—	2021	→
A Between Ethnicities Comparison of Chronic Obstructive Pulmonary Disease Genetic Risk.	Gim J et al.	—	2020	→
A correlational meta-analytical study of transforming growth factor-β genetic polymorphisms as a risk factor for chronic obstructive pulmonary disease.	He D et al.	—	2020	→
Canonical WNT pathway is activated in the airway epithelium in chronic obstructive pulmonary disease.	Carlier FM et al.	—	2020	→
Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.	Moll M et al.	—	2020	→
FSTL-1 Attenuation Causes Spontaneous Smoke-Resistant Pulmonary Emphysema.	Henkel M et al.	—	2020	→
Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap	John C et al.	—	2020	—
Genetic Polymorphisms of <i>CYP2C9</i>/<i>CYP2C19</i> in Chronic Obstructive Pulmonary Disease.	Lu H et al.	—	2020	→
Genetics of COPD.	Silverman EK	—	2020	→
Identification of biomarkers associated with clinical severity of chronic obstructive pulmonary disease.	Zhang J et al.	—	2020	→
Joint analysis of multiple phenotypes using a clustering linear combination method based on hierarchical clustering.	Li X et al.	—	2020	→
Loss of family with sequence similarity 13, member A exacerbates pulmonary hypertension through accelerating endothelial-to-mesenchymal transition.	Rinastiti P et al.	—	2020	→
Lung Development Genes and Adult Lung Function.	Portas L et al.	—	2020	→
Nicotinic Receptor Subunits Atlas in the Adult Human Lung.	Diabasana Z et al.	—	2020	→
Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules.	Gillenwater LA et al.	—	2020	→
PRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary Disease in a Rural Population in Chile.	Hosgood Iii HD et al.	—	2020	→
Role of Isocitrate Dehydrogenase 2 on DNA Hydroxymethylation in Human Airway Smooth Muscle Cells.	Yeung BHY et al.	—	2020	→
The Effects of Rare <i>SERPINA1</i> Variants on Lung Function and Emphysema in SPIROMICS.	Ortega VE et al.	—	2020	→
TRPV1 genetic polymorphisms and risk of COPD or COPD combined with PH in the Han Chinese population.	Xiong M et al.	—	2020	→
Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene.	Saferali A et al.	—	2019	→
Assessing pleiotropy and mediation in genetic loci associated with chronic obstructive pulmonary disease.	Parker MM et al.	—	2019	→
Chronic obstructive pulmonary disease (COPD) and lung cancer: common pathways for pathogenesis.	Parris BA et al.	—	2019	→
Cohort Profile: Extended Cohort for E-health, Environment and DNA (EXCEED).	John C et al.	—	2019	→
Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls.	Lutz SM et al.	—	2019	→
DSP variants may be associated with longitudinal change in quantitative emphysema.	Kim W et al.	—	2019	→
Epigenetic activation and memory at a <i>TGFB2</i> enhancer in systemic sclerosis.	Shin JY et al.	—	2019	→
Exploring the cross-phenotype network region of disease modules reveals concordant and discordant pathways between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis.	Halu A et al.	—	2019	→
Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene.	Ragland MF et al.	—	2019	→
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.	Sakornsakolpat P et al.	—	2019	→
Genetic risk factors for the development of pulmonary disease identified by genome-wide association.	Hall R et al.	—	2019	→
Genetic underpinnings of lung function and COPD.	Ranjan A et al.	—	2019	→
Genome-Wide Association Analysis of Single-Breath Dl<sub>CO</sub>.	Sakornsakolpat P et al.	—	2019	→
GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.	Heinzman JT et al.	—	2019	→
Hedgehog signaling in the airway epithelium of patients with chronic obstructive pulmonary disease.	Tam A et al.	—	2019	→
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report.	Hersh CP et al.	—	2019	→
Identification of an emphysema-associated genetic variant near <i>TGFB2</i> with regulatory effects in lung fibroblasts.	Parker MM et al.	—	2019	→
Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays.	Castaldi PJ et al.	—	2019	→
Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.	Boueiz A et al.	—	2019	→
Limited overlap in significant hits between genome-wide association studies on two airflow obstruction definitions in the same population.	van der Plaat DA et al.	—	2019	→
Management of chronic obstructive pulmonary disease-A position statement of the South African Thoracic Society: 2019 update.	Abdool-Gaffar MS et al.	—	2019	→
RNA-sequencing across three matched tissues reveals shared and tissue-specific gene expression and pathway signatures of COPD.	Morrow JD et al.	—	2019	→
The etiologic origins for chronic obstructive pulmonary disease.	Huang X et al.	—	2019	→
Why Does an Aging Smoker's Lung Develop Idiopathic Pulmonary Fibrosis and Not Chronic Obstructive Pulmonary Disease?	Selman M et al.	—	2019	→
β2 adrenergic receptor polymorphisms and COPD exacerbations: a complicated story.	Labaki WW et al.	—	2019	→
Accurate and adaptive imputation of summary statistics in mixed-ethnicity cohorts.	Togninalli M et al.	—	2018	→
A functional SNP upstream of the <i>ADRB2</i> gene is associated with COPD.	Li JX et al.	—	2018	→
A Genome-Wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos.	Burkart KM et al.	—	2018	→
A hierarchical clustering method for dimension reduction in joint analysis of multiple phenotypes.	Liang X et al.	—	2018	→
A novel method to test associations between a weighted combination of phenotypes and genetic variants.	Zhu H et al.	—	2018	→
Blood Leukocyte Concentrations, FEV<sub>1</sub> Decline, and Airflow Limitation. A 15-Year Longitudinal Study of World Trade Center-exposed Firefighters.	Zeig-Owens R et al.	—	2018	→
Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study.	Hayden LP et al.	—	2018	→
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression.	Nedeljkovic I et al.	—	2018	→
COPD is accompanied by co-ordinated transcriptional perturbation in the quadriceps affecting the mitochondria and extracellular matrix.	Willis-Owen SAG et al.	—	2018	→
Dissecting respiratory disease heterogeneity through the genetics of diffusing capacity.	Hobbs BD et al.	—	2018	→
Efficient computation of the joint probability of multiple inherited risk alleles from pedigree data.	Madsen T et al.	—	2018	→
Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease.	Morrow JD et al.	—	2018	→
Extracellular matrix in lung development, homeostasis and disease.	Zhou Y et al.	—	2018	→
From genes to treatments: a systematic review of the pharmacogenetics in smoking cessation.	Salloum NC et al.	—	2018	→
Genome-wide association study of lung function and clinical implication in heavy smokers.	Li X et al.	—	2018	→
Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease.	Seo M et al.	—	2018	→
Human Lung DNA Methylation Quantitative Trait Loci Colocalize with Chronic Obstructive Pulmonary Disease Genome-Wide Association Loci.	Morrow JD et al.	—	2018	→
Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression.	Schmiedel BJ et al.	—	2018	→
Inhibition of RAGE Attenuates Cigarette Smoke-Induced Lung Epithelial Cell Damage via RAGE-Mediated Nrf2/DAMP Signaling.	Lee H et al.	—	2018	→
Integration of Molecular Interactome and Targeted Interaction Analysis to Identify a COPD Disease Network Module.	Sharma A et al.	—	2018	→
Integrative genomics identifies new genes associated with severe COPD and emphysema.	Sakornsakolpat P et al.	—	2018	→
Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations.	Lamontagne M et al.	—	2018	→
Lobar Emphysema Distribution Is Associated With 5-Year Radiological Disease Progression.	Boueiz A et al.	—	2018	→
Longitudinal Modeling of Lung Function Trajectories in Smokers with and without Chronic Obstructive Pulmonary Disease.	Ross JC et al.	—	2018	→
Meta-analysis of exome array data identifies six novel genetic loci for lung function.	Jackson VE et al.	—	2018	→
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.	Wyss AB et al.	—	2018	→
Pathways to precision medicine in smoking cessation treatments.	Chen LS et al.	—	2018	→
Picking the Right Fruit: Intersecting Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Discoveries with Epigenetics.	Ortega VE	—	2018	→
RNAseq analysis of bronchial epithelial cells to identify COPD-associated genes and SNPs.	Yeo J et al.	—	2018	→
TGF-β Signaling in Lung Health and Disease.	Saito A et al.	—	2018	→
The Interplay Between Immune Response and Bacterial Infection in COPD: Focus Upon Non-typeable <i>Haemophilus influenzae</i>.	Su YC et al.	—	2018	→
The Value of Biosamples in Smoking Cessation Trials: A Review of Genetic, Metabolomic, and Epigenetic Findings.	Saccone NL et al.	—	2018	→
Trade-offs in aging lung diseases: a review on shared but opposite genetic risk variants in idiopathic pulmonary fibrosis, lung cancer and chronic obstructive pulmonary disease.	van Moorsel CHM	—	2018	→
Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.	Nedeljkovic I et al.	—	2018	→
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.	Qiao D et al.	—	2018	→
Whole-Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease.	Prokopenko D et al.	—	2018	→
A general approach to testing for pleiotropy with rare and common variants.	Lutz SM et al.	—	2017	→
Alpha-1 Antitrypsin PiMZ Genotype Is Associated with Chronic Obstructive Pulmonary Disease in Two Racial Groups.	Foreman MG et al.	—	2017	→
A Pilot Study Linking Endothelial Injury in Lungs and Kidneys in Chronic Obstructive Pulmonary Disease.	Polverino F et al.	—	2017	→
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.	Telomeres Mendelian Randomization Collaboration et al.	—	2017	→
Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases.	Peng S et al.	—	2017	→
Extreme Trait Whole-Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction.	Radder JE et al.	—	2017	→
Functional interactors of three genome-wide association study genes are differentially expressed in severe chronic obstructive pulmonary disease lung tissue.	Morrow JD et al.	—	2017	→
Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects.	Busch R et al.	—	2017	→
Genetic Control of Fatty Acid β-Oxidation in Chronic Obstructive Pulmonary Disease.	Jiang Z et al.	—	2017	→
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.	Hobbs BD et al.	—	2017	→
Genetic Pleiotropy between Nicotine Dependence and Respiratory Outcomes.	Zhang J et al.	—	2017	→
Genetic studies as a tool for identifying novel potential targets for treatment of COPD.	Manichaikul A et al.	—	2017	→
Genetic Variants in the Hedgehog Interacting Protein Gene Are Associated with the FEV1/FVC Ratio in Southern Han Chinese Subjects with Chronic Obstructive Pulmonary Disease.	Zhang Z et al.	—	2017	→
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.	Wain LV et al.	—	2017	→
Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution.	Boueiz A et al.	—	2017	→
Genome-wide genetic heterogeneity discovery with categorical covariates.	Llinares-López F et al.	—	2017	→
Human polymorphisms in nicotinic receptors: a functional analysis in iPS-derived dopaminergic neurons.	Deflorio C et al.	—	2017	→
Integrative studies implicate matrix metalloproteinase-12 as a culprit gene for large-artery atherosclerotic stroke.	Mahdessian H et al.	—	2017	→
PIK3CA mutation as a distinctive genetic feature of non-small cell lung cancer with chronic obstructive pulmonary disease: A comprehensive mutational analysis from a multi-institutional cohort.	Sawa K et al.	—	2017	→
Recent advances in understanding lung function development.	Melén E et al.	—	2017	→
Role of the Lung Microbiome in the Pathogenesis of Chronic Obstructive Pulmonary Disease.	Wang L et al.	—	2017	→
Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women.	Hardin M et al.	—	2017	→
Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis.	Hill A et al.	—	2017	→
Susceptibility to Childhood Pneumonia: A Genome-Wide Analysis.	Hayden LP et al.	—	2017	→
Targeted Sequencing of Lung Function Loci in Chronic Obstructive Pulmonary Disease Cases and Controls.	Artigas MS et al.	—	2017	→
The R213G polymorphism in SOD3 protects against allergic airway inflammation.	Gaurav R et al.	—	2017	→
Two <i>CHRN</i> susceptibility variants for COPD are genetic determinants of emphysema and chest computed tomography manifestations in Chinese patients.	Zhao Z et al.	—	2017	→
Using omics approaches to understand pulmonary diseases.	Kan M et al.	—	2017	→
Variable Susceptibility to Cigarette Smoke-Induced Emphysema in 34 Inbred Strains of Mice Implicates Abi3bp in Emphysema Susceptibility.	Radder JE et al.	—	2017	→
Visual Assessment of Chest Computed Tomographic Images Is Independently Useful for Genetic Association Analysis in Studies of Chronic Obstructive Pulmonary Disease.	Halper-Stromberg E et al.	—	2017	→
What do polymorphisms tell us about the mechanisms of COPD?	Li Y et al.	—	2017	→
A Chronic Obstructive Pulmonary Disease Susceptibility Gene, FAM13A, Regulates Protein Stability of β-Catenin.	Jiang Z et al.	—	2016	→
An Adaptive Fisher's Combination Method for Joint Analysis of Multiple Phenotypes in Association Studies.	Liang X et al.	—	2016	→
An ECLIPSE View of Alpha-1 Antitrypsin Deficiency.	Lomas DA	—	2016	→
Bipartite Community Structure of eQTLs.	Platig J et al.	—	2016	→
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.	Sun W et al.	—	2016	→
Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing.	Pouladi N et al.	—	2016	→
Differential DNA methylation marks and gene comethylation of COPD in African-Americans with COPD exacerbations.	Busch R et al.	—	2016	→
DNA methylation profiling in human lung tissue identifies genes associated with COPD.	Morrow JD et al.	—	2016	→
Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease.	Hobbs BD et al.	—	2016	→
Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease.	Qiao D et al.	—	2016	→
Genetic effects on treatment response of umeclidinium/vilanterol in chronic obstructive pulmonary disease.	Condreay L et al.	—	2016	→
Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma.	McGeachie MJ et al.	—	2016	→
Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study.	Begum F et al.	—	2016	→
Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort.	Begum F et al.	—	2016	→
Mitochondrial iron chelation ameliorates cigarette smoke-induced bronchitis and emphysema in mice.	Cloonan SM et al.	—	2016	→
Post-GWAS Prioritization Through Data Integration Provides Novel Insights on Chronic Obstructive Pulmonary Disease.	Lu Q et al.	—	2016	→
Risk of Lung Disease in PI MZ Heterozygotes. Current Status and Future Research Directions.	Silverman EK	—	2016	→
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.	Matsson H et al.	—	2016	→
The Advent of High-Throughput Sequencing Studies of Chronic Obstructive Pulmonary Disease.	Ortega VE et al.	—	2016	→
Translating Lung Function Genome-Wide Association Study (GWAS) Findings: New Insights for Lung Biology.	Kheirallah AK et al.	—	2016	→
A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.	Lutz SM et al.	—	2015	→
A genome-wide association study of chronic obstructive pulmonary disease in Hispanics.	Chen W et al.	—	2015	→
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.	Cho MH et al.	—	2015	→
Are Asthma and COPD a Continuum of the Same Disease?	Soler X et al.	—	2015	→
Candidate genes for COPD: current evidence and research.	Kim WJ et al.	—	2015	→
COPD: balancing oxidants and antioxidants.	Fischer BM et al.	—	2015	→
Early chronic obstructive pulmonary disease: definition, assessment, and prevention.	Rennard SI et al.	—	2015	→
Generative Method to Discover Genetically Driven Image Biomarkers.	Batmanghelich NK et al.	—	2015	→
Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci.	Castaldi PJ et al.	—	2015	→
Genome-wide interaction study of gene-by-occupational exposure and effects on FEV1 levels.	de Jong K et al.	—	2015	→
Hippo and TGF-β interplay in the lung field.	Saito A et al.	—	2015	→
Integrative pathway genomics of lung function and airflow obstruction.	Gharib SA et al.	—	2015	→
IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.	Lee JH et al.	—	2015	→
Molecular mechanisms underlying variations in lung function: a systems genetics analysis.	Obeidat M et al.	—	2015	→
Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.	Wain LV et al.	—	2015	→
Personalized respiratory medicine: exploring the horizon, addressing the issues. Summary of a BRN-AJRCCM workshop held in Barcelona on June 12, 2014.	Agustí A et al.	—	2015	→
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.	Soler Artigas M et al.	—	2015	→
Update in Chronic Obstructive Pulmonary Disease 2014.	Seemungal TA et al.	—	2015	→
A Decade of National Heart, Lung, and Blood Institute Programs Supporting COPD Research and Education .	Postow L et al.	—	2014	→
Analyzing networks of phenotypes in complex diseases: methodology and applications in COPD.	Chu JH et al.	—	2014	→
Beyond GWAS in COPD: probing the landscape between gene-set associations, genome-wide associations and protein-protein interaction networks.	McDonald ML et al.	—	2014	→
Chronic Obstructive Pulmonary Disease Genetics: A Review of the Past and a Look Into the Future.	Hardin M et al.	—	2014	→
Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease.	McDonald ML et al.	—	2014	→
DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease.	Lee JH et al.	—	2014	→
Early origins of chronic obstructive lung diseases across the life course.	Duijts L et al.	—	2014	→
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.	Lee JH et al.	—	2014	→
Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.	Castaldi PJ et al.	—	2014	→
Integrative genomics of chronic obstructive pulmonary disease.	Hobbs BD et al.	—	2014	→