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Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

Author

Listed:
  • Xutong Zhao

    (University of Michigan)

  • Dandi Qiao

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School)

  • Chaojie Yang

    (University of Virginia)

  • Silva Kasela

    (New York Genome Center
    Columbia University)

  • Wonji Kim

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School)

  • Yanlin Ma

    (University of Virginia)

  • Nick Shrine

    (University of Leicester)

  • Chiara Batini

    (University of Leicester)

  • Tamar Sofer

    (Department of Medicine, Harvard Medical School
    Division of Sleep and Circadian Disorders, Brigham and Women’s Hospital)

  • Sarah A. Gagliano Taliun

    (University of Michigan)

  • Phuwanat Sakornsakolpat

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School)

  • Pallavi P. Balte

    (Department of Medicine, Columbia University Medical Center)

  • Dmitry Prokopenko

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School)

  • Bing Yu

    (Department of Epidemiology, Human Genetics & Environmental Sciences, UTHealth School of Public Health)

  • Leslie A. Lange

    (Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus)

  • Josée Dupuis

    (Boston University School of Public Health)

  • Brian E. Cade

    (Department of Medicine, Harvard Medical School
    Division of Sleep and Circadian Disorders, Brigham and Women’s Hospital)

  • Jiwon Lee

    (Division of Sleep and Circadian Disorders, Brigham and Women’s Hospital)

  • Sina A. Gharib

    (University of Washington)

  • Michelle Daya

    (Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus)

  • Cecelia A. Laurie

    (University of Washington)

  • Ingo Ruczinski

    (Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health)

  • L. Adrienne Cupples

    (Boston University School of Public Health
    Boston University and the National Heart Lung and Blood Institute’s Framingham Heart Study)

  • Laura R. Loehr

    (Department of Medicine, UNC School of Medicine)

  • Traci M. Bartz

    (University of Washington)

  • Alanna C. Morrison

    (The University of Texas Health Science Center at Houston)

  • Bruce M. Psaty

    (University of Washington
    Kaiser Permanente Washington Health Research Institute)

  • Ramachandran S. Vasan

    (Boston University and the National Heart Lung and Blood Institute’s Framingham Heart Study
    Boston University School of Medicine and Public Health)

  • James G. Wilson

    (University of Mississippi Medical Center)

  • Kent D. Taylor

    (The Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Peter Durda

    (University of Vermont)

  • W. Craig Johnson

    (University of Washington)

  • Elaine Cornell

    (University of Vermont)

  • Xiuqing Guo

    (The Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Yongmei Liu

    (Duke University Medical Center)

  • Russell P. Tracy

    (University of Vermont)

  • Kristin G. Ardlie

    (Broad Institute of MIT and Harvard)

  • François Aguet

    (Broad Institute of MIT and Harvard)

  • David J. VanDenBerg

    (University of Southern California)

  • George J. Papanicolaou

    (Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health)

  • Jerome I. Rotter

    (The Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Kathleen C. Barnes

    (Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus)

  • Deepti Jain

    (University of Washington)

  • Deborah A. Nickerson

    (University of Washington)

  • Donna M. Muzny

    (The Human Genome Sequencing Center, Baylor College of Medicine)

  • Ginger A. Metcalf

    (The Human Genome Sequencing Center, Baylor College of Medicine)

  • Harshavardhan Doddapaneni

    (The Human Genome Sequencing Center, Baylor College of Medicine)

  • Shannon Dugan-Perez

    (The Human Genome Sequencing Center, Baylor College of Medicine)

  • Namrata Gupta

    (Broad Institute of MIT and Harvard)

  • Stacey Gabriel

    (Broad Institute of MIT and Harvard)

  • Stephen S. Rich

    (University of Virginia)

  • George T. O’Connor

    (Boston University School Of Medicine, Pulmonary Center)

  • Susan Redline

    (Department of Medicine, Harvard Medical School
    Division of Sleep and Circadian Disorders, Brigham and Women’s Hospital
    Division of Pulmonary, Critical Care, and Sleep Medicine, Beth Israel Deaconess Medical Center)

  • Robert M. Reed

    (University of Maryland School of Medicine)

  • Cathy C. Laurie

    (University of Washington)

  • Martha L. Daviglus

    (University of Illinois at Chicago)

  • Liana K. Preudhomme

    (University of Miami)

  • Kristin M. Burkart

    (Department of Medicine, Columbia University Medical Center)

  • Robert C. Kaplan

    (Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx
    Public Health Sciences Division, Fred Hutchinson Cancer Research Center)

  • Louise V. Wain

    (University of Leicester
    National Institute for Health Research, Leicester Respiratory Biomedical Research Centre, Glenfield Hospital)

  • Martin D. Tobin

    (University of Leicester
    National Institute for Health Research, Leicester Respiratory Biomedical Research Centre, Glenfield Hospital)

  • Stephanie J. London

    (Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services)

  • Tuuli Lappalainen

    (New York Genome Center
    Columbia University)

  • Elizabeth C. Oelsner

    (Department of Medicine, Columbia University Medical Center)

  • Goncalo R. Abecasis

    (University of Michigan)

  • Edwin K. Silverman

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School)

  • R. Graham Barr

    (Department of Medicine, Columbia University Medical Center)

  • Michael H. Cho

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School)

  • Ani Manichaikul

    (University of Virginia)

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.

Suggested Citation

  • Xutong Zhao & Dandi Qiao & Chaojie Yang & Silva Kasela & Wonji Kim & Yanlin Ma & Nick Shrine & Chiara Batini & Tamar Sofer & Sarah A. Gagliano Taliun & Phuwanat Sakornsakolpat & Pallavi P. Balte & Dmi, 2020. "Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants," Nature Communications, Nature, vol. 11(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-18334-7
    DOI: 10.1038/s41467-020-18334-7
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    Cited by:

    1. Lili Liu & Atlas Khan & Elena Sanchez-Rodriguez & Francesca Zanoni & Yifu Li & Nicholas Steers & Olivia Balderes & Junying Zhang & Priya Krithivasan & Robert A. LeDesma & Clara Fischman & Scott J. Heb, 2022. "Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    2. Ozvan Bocher & Cristen J. Willer & Eleftheria Zeggini, 2023. "Unravelling the genetic architecture of human complex traits through whole genome sequencing," Nature Communications, Nature, vol. 14(1), pages 1-4, December.

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