ArticleNature communications2020
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
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Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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27citing papers in PubMed, 1 pooled it
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.Respiratory research · 2023Pooled it
- Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants.Genome biology · 2026Article
- Exploring the Roles of Wnt Signaling Pathway and Non-Coding RNAs in COPD.International journal of chronic obstructive pulmonary disease · 2026Review
- Pulmonary Immunocompromise in Human Immunodeficiency Virus Disease.Clinics in chest medicine · 2025Review
- Integrating bulk and single-cell RNA sequencing data: unveiling RNA methylation and autophagy-related signatures in chronic obstructive pulmonary disease patients.Scientific reports · 2025Article
- Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review.HGG advances · 2025Review
- Genomic and Serological Rheumatoid Arthritis Biomarkers,Annals of the American Thoracic Society · 2025Article
- Is it time to end race and ethnicity adjustment for pediatric pulmonary function tests?Pediatric pulmonology · 2024Review
- Genetics of chronic respiratory disease.Nature reviews. Genetics · 2024Review
- An Explainable Deep Learning Classifier of Bovine Mastitis Based on Whole-Genome Sequence Data-Circumventing the p >> n Problem.International journal of molecular sciences · 2024Article
- Testing Alpha-1 Antitrypsin Deficiency in Black Populations.Advances in respiratory medicine · 2023Review
- Approach to Clinical Trials for the Prevention of Pulmonary Fibrosis.Annals of the American Thoracic Society · 2023Article
- Remote regulation of rs80245547 and rs72673891 mediated by transcription factors C-Jun and CREB1 affectiScience · 2023Article
- Systemic Markers of Lung Function and Forced Expiratory Volume in 1 Second Decline across Diverse Cohorts.Annals of the American Thoracic Society · 2023Article
- Unravelling the genetic architecture of human complex traits through whole genome sequencing.Nature communications · 2023Article
- Review
- Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.Human molecular genetics · 2022Article
- Pathophysiology of Asthma-Chronic Obstructive Pulmonary Disease Overlap.Immunology and allergy clinics of North America · 2022Review
- Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.American journal of human genetics · 2022Article
- Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder.The Lancet. Respiratory medicine · 2022Review
Corrections and comments
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Authors and funding
71 authors.
Xutong ZhaoCenter for Statistical Genetics, and Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID 0000-0003-3179-7369
Dandi QiaoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Chaojie YangCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA.
Silva KaselaNew York Genome Center, New York, NY, 10013, USA.ORCID 0000-0003-4362-0034
Wonji KimChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Yanlin MaCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA.
Nick ShrineGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, United Kingdom.ORCID 0000-0003-3641-4371
Chiara BatiniGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, United Kingdom.
Tamar SoferDepartment of Medicine, Harvard Medical School, Boston, MA, 02115, USA.ORCID 0000-0001-8520-8860
Sarah A Gagliano TaliunCenter for Statistical Genetics, and Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID 0000-0003-1306-1868
Phuwanat SakornsakolpatChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.ORCID 0000-0002-4308-0974
Pallavi P BalteDepartment of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
Dmitry ProkopenkoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Bing YuDepartment of Epidemiology, Human Genetics & Environmental Sciences, UTHealth School of Public Health, Houston, TX, 77030, USA.
Leslie A LangeDivision of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, 80045, USA.
Josée DupuisDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.ORCID 0000-0003-2871-3603
Brian E CadeDepartment of Medicine, Harvard Medical School, Boston, MA, 02115, USA.ORCID 0000-0003-1424-0673
Jiwon LeeDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, 02115, USA.ORCID 0000-0002-4079-7494
Sina A GharibDivision of Pulmonary, Critical Care and Sleep Medicine, University of Washington, Seattle, WA, 98109, USA.
Michelle DayaDivision of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, 80045, USA.ORCID 0000-0002-9057-6593
Cecelia A LaurieDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.ORCID 0000-0001-6569-2501
Ingo RuczinskiDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA.
L Adrienne CupplesDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.ORCID 0000-0003-0273-7965
Laura R LoehrDepartment of Medicine, UNC School of Medicine, Chapel Hill, NC, 27599, USA.
Traci M BartzDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
Alanna C MorrisonHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
Bruce M PsatyCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA, 98101, USA.
Ramachandran S VasanBoston University and the National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.ORCID 0000-0001-7357-5970
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.ORCID 0000-0002-2756-4370
Peter DurdaDepartment of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, 05405, USA.
W Craig JohnsonDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
Elaine CornellDepartment of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, 05405, USA.
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
Yongmei LiuDepartment of Medicine, Division of Cardiology, Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, 27701, USA.
Russell P TracyDepartment of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, 05405, USA.ORCID 0000-0002-0080-2420
Kristin G ArdlieBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
François AguetBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0001-9414-300X
David J VanDenBergDepartment of Preventive Medicine, University of Southern California, Los Angeles, CA, 90033, USA.ORCID 0000-0002-5404-5218
George J PapanicolaouDivision of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.ORCID 0000-0001-7191-1723
Kathleen C BarnesDivision of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, 80045, USA.ORCID 0000-0002-3030-4705
Deepti JainDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA, 98195, USA.
Donna M MuznyThe Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Ginger A MetcalfThe Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Harshavardhan DoddapaneniThe Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID 0000-0002-2433-633X
Shannon Dugan-PerezThe Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Namrata GuptaBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Stacey GabrielBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA.ORCID 0000-0003-3872-7793
George T O'ConnorBoston University School Of Medicine, Pulmonary Center, Boston, MA, 02118, USA.
Susan RedlineDepartment of Medicine, Harvard Medical School, Boston, MA, 02115, USA.
Robert M ReedDivision of Pulmonary and Critical Care Medicine, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
Cathy C LaurieDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
Martha L DaviglusInstitute for Minority Health Research, University of Illinois at Chicago, Chicago, IL, 60612, USA.
Liana K PreudhommeDepartment of Psychology, University of Miami, Miami, FL, 33124, USA.
Kristin M BurkartDepartment of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
Robert C KaplanDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York, NY, 10461, USA.
Louise V WainGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, United Kingdom.ORCID 0000-0003-4951-1867
Martin D TobinGenetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, United Kingdom.
Stephanie J LondonEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Durham, NC, 27709, USA.ORCID 0000-0003-4911-5290
Tuuli LappalainenNew York Genome Center, New York, NY, 10013, USA.ORCID 0000-0002-7746-8109
Elizabeth C OelsnerDepartment of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
Goncalo R AbecasisCenter for Statistical Genetics, and Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA.ORCID 0000-0003-1509-1825
Edwin K SilvermanChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
R Graham BarrDepartment of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
TOPMed Lung Working Group
Michael H ChoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA. remhc@channing.harvard.edu.ORCID 0000-0002-4907-1657
Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA. amanicha@virginia.edu.ORCID 0000-0002-5998-795X
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MClinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MIDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9MPulmonary microvascular perfusion in the Multi-Ethnic Study of AtherosclerosisR01HL077612 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI R Graham BARR · 2004 to 2026
$18.8MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MASSOCIATION OF SLEEP DISORDERS WITH CARDIOVASCULAR HEALTH ACROSS ETHNIC GROUPSR01HL098433 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI REDLINE, SUSAN S. · 2010 to 2015
$8.2MGenetic 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
$7.7MPhenotypic and Molecular Signatures for Sleep Apnea and Related MorbiditiesR35HL135818 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI REDLINE, SUSAN S. · 2017 to 2023
$7.2MBEHAVIORAL MEDICINE RESEARCH IN CARDIOVASCULAR DISEASET32HL007426 · NHLBI · UNIVERSITY OF MIAMI CORAL GABLES · PI PENEDO, FRANK J · 1985 to 2023
$7.1MMedical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/S003762/1NCATS NIH HHS UL1 TR001873NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201500015CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS K01 HL129039NHLBI NIH HHS K01 HL135405NHLBI NIH HHS K23 HL130627NHLBI NIH HHS R01 HL046380NHLBI NIH HHS R01 HL077612NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL098433NHLBI NIH HHS R01 HL113338NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL131565NHLBI NIH HHS R01 HL135142NHLBI NIH HHS R01 HL137927NHLBI NIH HHS R01 HL142028NHLBI NIH HHS R01 HL147148NHLBI NIH HHS R03 HL154284NHLBI NIH HHS R21 HL121457NHLBI NIH HHS R21 HL129924NHLBI NIH HHS R35 HL135818NHLBI NIH HHS T32 HL007426NHLBI NIH HHS U01 HL117626NHLBI NIH HHS U01 HL130114NIAID NIH HHS R01 AI132476
Abstract
Chronic obstructive pulmonary disease (COPD), diagnosed by reduced lung function, is a leading cause of morbidity and mortality. We performed whole genome sequence (WGS) analysis of lung function and COPD in a multi-ethnic sample of 11,497 participants from population- and family-based studies, and 8499 individuals from COPD-enriched studies in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. We identify at genome-wide significance 10 known GWAS loci and 22 distinct, previously unreported loci, including two common variant signals from stratified analysis of African Americans. Four novel common variants within the regions of PIAS1, RGN (two variants) and FTO show evidence of replication in the UK Biobank (European ancestry n ~ 320,000), while colocalization analyses leveraging multi-omic data from GTEx and TOPMed identify potential molecular mechanisms underlying four of the 22 novel loci. Our study demonstrates the value of performing WGS analyses and multi-omic follow-up in cohorts of diverse ancestry.
Indexed as
Genetic LociWhole Genome SequencingAdultAgedAged, 80 and overAlpha-Ketoglutarate-Dependent Dioxygenase FTOBlack or African AmericanCalcium-Binding ProteinsFeasibility StudiesFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntracellular Signaling Peptides and ProteinsLungAlpha-Ketoglutarate-Dependent Dioxygenase FTOCalcium-Binding ProteinsFTO protein, humanIntracellular Signaling Peptides and ProteinsPIAS1 protein, humanProtein Inhibitors of Activated STATRGN protein, humanSmall Ubiquitin-Related Modifier Proteins
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