ArticleThe Lancet. Respiratory medicine2020
Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.
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Article in The Lancet. Respiratory medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 68 papers, 7 of them syntheses that pooled it.
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68citing papers in PubMed, 7 pooled it
8.2field-weighted citation impact, top 2% of its field
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Who cites it
68 citing papers in PubMed, 7 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- Incidence and Risk Factors for Progression from Pre-COPD to COPD: A Systematic Review and Meta‑analysis.International journal of chronic obstructive pulmonary disease · 2026Pooled 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
- Plasma protein signatures of adult asthma.Allergy · 2024Pooled it
- Genome-wide association study of preserved ratio impaired spirometry (PRISm).The European respiratory journal · 2024Pooled it
- X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.Respiratory research · 2023Pooled it
- Single-cell transcriptomics highlights immunological dysregulations of monocytes in the pathobiology of COPD.Respiratory research · 2022Pooled it
- The Promise of Polygenic Risk Prediction in Smoking Cessation: Evidence From Two Treatment Trials.Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco · 2022Pooled it
- Genetic variants in pulmonary hypertension associated with chronic obstructive pulmonary disease.Current opinion in pulmonary medicine · 2026Review
- Article
- Joint Associations of Sleep Patterns and Genetic Susceptibility With Dynamic Transitions of Chronic Obstructive Pulmonary Disease and Coronary Heart Disease and the Mediating Role of Inflammatory Biomarkers and Metabolites.Journal of the American Heart Association · 2026Article
- Multi-trait polygenic scores for COPD and COPD exacerbations implicate druggable proteins.JCI insight · 2026Article
- Beyond spirometry: understanding COPD origins to support a new diagnostic approach.ERJ open research · 2026Review
- A Narrative Review of Gene-Environment Interactions in Pediatric Pulmonology.Pediatric pulmonology · 2026Review
- New approaches to uncover COPD pathobiology and develop therapies.JCI insight · 2026Review
- Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.Nature genetics · 2026Article
- Aberrant cellular communities underlying disease heterogeneity in chronic obstructive pulmonary disease.Nature genetics · 2026Article
- Integrative multi-omic analyses identify major axes of heterogeneity in chronic obstructive pulmonary disease and uncover their molecular contributors.medRxiv : the preprint server for health sciences · 2026Article
- S4-multi: Enhancing polygenic score prediction in ancestrally diverse populations.HGG advances · 2026Article
- Genome-wide association study of lung function decline using elastic-net regression: a prospective analysis in Korean cohort.Human genomics · 2025Article
- Unmet need for biomarkers in chronic cough: a review of current challenges and future directions.ERJ open research · 2025Review
8 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
42 authors at 20 institutions in 8 countries.
Matthew MollChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Phuwanat SakornsakolpatChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Nick ShrineGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.
Brian D HobbsChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Dawn L DeMeoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Catherine JohnGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.
Anna L GuyattGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.
Michael J McGeachieChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Sina A GharibComputational Medicine Core, Center for Lung Biology, Department of Medicine, University of Washington, Seattle, WA, USA; Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Medicine, University of Washington, Seattle, WA, USA.
Ma'en ObeidatChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; University of British Columbia Center for Heart Lung Innovation, St Paul's Hospital, Vancouver, BC, Canada.
Lies LahousseDepartment of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Bioanalysis, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.
Sara R A WijnantDepartment of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Bioanalysis, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Guy BrusselleDepartment of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Respiratory Medicine, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Deborah A MeyersDepartment of Medicine, University of Arizona, Tucson, AZ, USA.
Eugene R BleeckerDepartment of Medicine, University of Arizona, Tucson, AZ, USA.
Xingnan LiDepartment of Medicine, University of Arizona, Tucson, AZ, USA.
Ruth Tal-SingerGlaxoSmithKline Research and Development, Collegeville, PA, USA.
Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA.
Sungho WonDepartment of Public Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, South Korea; Interdisciplinary Program of Bioinformatics, College of National Sciences, Seoul National University, Seoul, South Korea; Institute of Health and Environment, Seoul National University, Seoul, South Korea.
Woo Jin KimDepartment of Internal Medicine, Kangwon National University, Chuncheon, South Korea.
Ah Ra DoInterdisciplinary Program of Bioinformatics, College of National Sciences, Seoul National University, Seoul, South Korea.
George R WashkoDivision of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
R Graham BarrDepartment of Medicine and Department of Epidemiology, Columbia University Medical Center, New York, NY, USA.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA; Kaiser Permanente Washington Health Research Institute, Seattle, WA.
Traci M BartzCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Nadia N HanselSchool of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Kathleen BarnesColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
John E HokansonSchool of Public Health, University of Colorado, Denver.
James D CrapoDivision of Pulmonary, Critical Care, and Sleep Medicine, National Jewish Health, Denver, CO, USA.
David LynchDepartment of Radiology, National Jewish Health, Denver, CO, USA.
Per BakkeDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Amund GulsvikDivision of Respiratory Medicine, Queen's Medical Centre, Nottingham, UK.
Ian P HallNational Institute for Health Research Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK.
Louise WainGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK; National Institute for Health Research Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK.
International COPD Genetics Consortium
SpiroMeta Consortium
Scott T WeissChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Edwin K SilvermanChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Frank DudbridgeGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.
Martin D TobinGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK; National Institute for Health Research Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK. Electronic address: martin.tobin@leicester.ac.uk.
Michael H ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: remhc@channing.harvard.edu.
Brigham and Women's Hospital · USUniversity of Leicester · GBUniversity of Arizona · USUniversity of Washington · USGhent University · BEGlenfield Hospital · GBNational Jewish Health · USSeoul National University · KRUniversity of Colorado Denver · USUniversity of Virginia · USColumbia University Irving Medical Center · USErasmus University Rotterdam · NLGlaxoSmithKline (United States) · USJohns Hopkins Medicine · USKangwon National University · KRQueen's Medical Centre · GBSiriraj Hospital · THSt. Paul's Hospital · CAUniversity of Bergen · NOUniversity of Colorado Anschutz Medical Campus · US
Funding
Respiratory Computational Discovery CoreP01HL114501 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI SILVERMAN, EDWIN K · 2013 to 2025
$24.9MGenetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7MSYSTEMS APPROACHES TO THE EPIDEMIOLOGY, GENETICS AND GENOMICS OF LUNG DISEASEST32HL007427 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI DAWN L DEMEO, Edwin K Silverman · 1985 to 2026
$13.6MSystems Biology of Airway DiseaseP01HL132825 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI WEISS, SCOTT T · 2016 to 2020
$12.6MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MGenetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung AbnormalitiesR01HL135142 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MICHAEL H. CHO, GARY MATTHEW HUNNINGHAKE · 2017 to 2026
$7.7MCOPD Susceptibility, Heterogeneity, and Progression: Proteomics and GeneticsR01HL133135 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MORITZ, ROBERT L, SILVERMAN, EDWIN K · 2017 to 2025
$7.2MCHS research resources for the cardiovascular health of older adultsU01HL130114 · NHLBI · UNIVERSITY OF WASHINGTON · PI BURKE, GREGORY L, KRONMAL, RICHARD A · 2016 to 2019
$6.6MInterstitial Lung Abnormalities: Defining the Phenotype, Causes, and Consequences.R01HL111024 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HUNNINGHAKE, GARY MATTHEW · 2013 to 2022
$6.4MIdentifying Genetic Determinants of Severe, Early-Onset COPDR01HL113264 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2012 to 2016
$6.0MAsthma Exacerbations and MicroRNA prediction: Treatment Response in an Underserved Ethnicity (AEM-TRUE)R01HL139634 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MCGEACHIE, MICHAEL JOHN · 2018 to 2022
$4.3MGenetic and Functional Dissection of a Cluster of COPD GWAS Signals on Chromosome 4qR01HL147148 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2019 to 2022
$3.5MMedical Research Council MC_PC_12010Medical Research Council MC_UU_00006/1Medical Research Council MC_UU_12015/1Medical Research Council MR/N011317/1Medical Research Council MR/P00167X/1Medical Research Council MR/S019669/1NHLBI NIH HHS K08 HL136928NHLBI NIH HHS P01 HL114501NHLBI NIH HHS P01 HL132825NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL111024NHLBI NIH HHS R01 HL113264NHLBI NIH HHS R01 HL122464NHLBI NIH HHS R01 HL131565NHLBI NIH HHS R01 HL133135NHLBI NIH HHS R01 HL135142NHLBI NIH HHS R01 HL137927NHLBI NIH HHS R01 HL139634NHLBI NIH HHS R01 HL147148NHLBI NIH HHS T32 HL007427NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL130114Wellcome Trust
Abstract
backgroundGenetic factors influence chronic obstructive pulmonary disease (COPD) risk, but the individual variants that have been identified have small effects. We hypothesised that a polygenic risk score using additional variants would predict COPD and associated phenotypes.
methodsWe constructed a polygenic risk score using a genome-wide association study of lung function (FEV
findingsThe polygenic risk score was associated with COPD in European (odds ratio [OR] per SD 1·81 [95% CI 1·74-1·88] and non-European (1·42 [1·34-1·51]) populations. Compared with the first decile, the tenth decile of the polygenic risk score was associated with COPD, with an OR of 7·99 (6·56-9·72) in European ancestry and 4·83 (3·45-6·77) in non-European ancestry cohorts. The polygenic risk score was superior to previously described genetic risk scores and, when combined with clinical risk factors (ie, age, sex, and smoking pack-years), showed improved prediction for COPD compared with a model comprising clinical risk factors alone (AUC 0·80 [0·79-0·81] vs 0·76 [0·75-0·76]). The polygenic risk score was associated with CT imaging phenotypes, including wall area percent, quantitative and qualitative measures of emphysema, local histogram emphysema patterns, and destructive emphysema subtypes. The polygenic risk score was associated with a reduced lung growth pattern.
interpretationA risk score comprised of genetic variants can identify a small subset of individuals at markedly increased risk for moderate-to-severe COPD, emphysema subtypes associated with cigarette smoking, and patterns of reduced lung growth.
fundingUS National Institutes of Health, Wellcome Trust.
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AdultCase-Control StudiesCohort StudiesFemaleForced Expiratory VolumeGenome-Wide Association StudyHumansMaleMiddle AgedPhenotypePulmonary Disease, Chronic ObstructiveRisk FactorsVital Capacity
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