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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/50249
Title: Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Authors: Phuwanat Sakornsakolpat
Dmitry Prokopenko
Maxime Lamontagne
Nicola F. Reeve
Anna L. Guyatt
Victoria E. Jackson
Nick Shrine
Dandi Qiao
Traci M. Bartz
Deog Kyeom Kim
Mi Kyeong Lee
Jeanne C. Latourelle
Xingnan Li
Jarrett D. Morrow
Ma’en Obeidat
Annah B. Wyss
Per Bakke
R. Graham Barr
Terri H. Beaty
Steven A. Belinsky
Guy G. Brusselle
James D. Crapo
Kim de Jong
Dawn L. DeMeo
Tasha E. Fingerlin
Sina A. Gharib
Amund Gulsvik
Ian P. Hall
John E. Hokanson
Woo Jin Kim
David A. Lomas
Stephanie J. London
Deborah A. Meyers
George T. O’Connor
Stephen I. Rennard
David A. Schwartz
Pawel Sliwinski
David Sparrow
David P. Strachan
Ruth Tal-Singer
Yohannes Tesfaigzi
Jørgen Vestbo
Judith M. Vonk
Jae Joon Yim
Xiaobo Zhou
Yohan Bossé
Ani Manichaikul
Lies Lahousse
Edwin K. Silverman
H. Marike Boezen
Louise V. Wain
Martin D. Tobin
Brian D. Hobbs
Michael H. Cho
Chiara Batini
Jing Hua Zhao
Matthias Wielscher
Stefan Weiss
Katherine A. Kentistou
James P. Cook
Jennie Hui
Stefan Karrasch
Medea Imboden
Sarah E. Harris
Jonathan Marten
Stefan Enroth
Shona M. Kerr
Ida Surakka
Veronique Vitart
Terho Lehtimäki
Ralf Ewert
Christian Gieger
Georg Homuth
Peter K. Joshi
Claudia Langenberg
Lars Lind
Jian’an Luan
Anubha Mahajan
Alison Murray
David J. Porteous
Rajesh Rawal
Blair H. Smith
Paul R.H.J. Timmers
Olli T. Raitakari
Mika Kähönen
Ozren Polasek
Ulf Gyllensten
Igor Rudan
Ian J. Deary
Nicole M. Probst-Hensch
Holger Schulz
Alan L. James
James F. Wilson
Beate Stubbe
Eleftheria Zeggini
Marjo Riitta Jarvelin
Nick Wareham
Caroline Hayward
Andrew P. Morris
Alvar Agusti
National Institute for Health and Welfare
National Jewish Health
Wellcome Trust Centre for Human Genetics
GlaxoSmithKline, USA
Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval
National Institute of Tuberculosis and Lung Diseases, Warszawa
University Hospital of Ghent
Universiteit Gent
University of Leicester
Université Laval
Erasmus MC
University of Western Australia
University of Cambridge
Massachusetts General Hospital
Universitetet i Bergen
St George's University of London
Ludwig-Maximilians-Universität München
National Institute of Environmental Health Sciences
University of Colorado at Denver Anschutz Medical Campus
University of Edinburgh
Sir Charles Gairdner Hospital
Turun Yliopistollinen Keskussairaala
School of Clinical Medicine
Helmholtz Center Munich German Research Center for Environmental Health
University of Dundee College of Medicine, Dentistry and Nursing
Universitat Basel
Swiss Tropical and Public Health Institute (Swiss TPH)
Framingham Heart Study
UCL
University of Virginia
University of Liverpool
Brunel University London
Brigham and Women's Hospital
Oulu University Hospital
University of Nebraska Medical Center
University of Washington, Seattle
Imperial College London
University of Nottingham
Oulun Yliopisto
Edinburgh Medical School, Medical Research Council Human Genetics Unit
Vagelos College of Physicians and Surgeons
Faculty of Medicine, Siriraj Hospital, Mahidol University
Tampereen Yliopisto
University of Aberdeen School of Medicine
Lovelace Respiratory Research Institute
The University of British Columbia
University of Arizona
University of Colorado Health Sciences Center
University of Western Australia Faculty of Medicine and Dentistry
Glenfield Hospital
University Hospital of Tampere
Sveučilište u Splitu
Turun yliopisto
Boston University School of Medicine
Johns Hopkins Bloomberg School of Public Health
University of Groningen, University Medical Center Groningen
Wellcome Sanger Institute
AstraZeneca
Uppsala Universitet
University of Manchester
Helsingin Yliopisto
Universitat de Barcelona
Kangwon National University
Seoul National University College of Medicine
Westfälische Wilhelms-Universität Münster
Member of the German Center for Lung Research (DZL)
University Medicine Greifswald
National Institute for Health Research Nottingham Biomedical Research Centre
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 1-Mar-2019
Citation: Nature Genetics. Vol.51, No.3 (2019), 494-505
Abstract: © 2019, The Author(s), under exclusive licence to Springer Nature America, Inc. Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci associated with P < 5 × 10−8; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk loci in lung tissue, smooth muscle, and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD.
URI: http://repository.li.mahidol.ac.th/dspace/handle/123456789/50249
metadata.dc.identifier.url: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062145797&origin=inward
ISSN: 15461718
10614036
Appears in Collections:Scopus 2019

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