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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell type and phenotype associations

Sakornsakolpat, Phuwanat; Prokopenko, Dmitry; Lamontagne, Maxime; Reeve, Nicola F.; Guyatt, Anna L.; Jackson, Victoria E.; Shrine, Nick; Qiao, Dandi; Bartz, Traci M.; Kim, Deog Kyeom; Lee, Mi Kyeong; Latourelle, Jeanne C.; Li, Xingnan; Morrow, Jarrett D.; Obeidat, Ma'en; Wyss, Annah B.; Bakke, Per; Graham Barr, R.; Beaty, Terri H.; Belinsky, Steven A.; Brusselle, Guy G.; Crapo, James D.; de Jong, Kim; DeMeo, Dawn L.; Fingerlin, Tasha L.; Gharib, Sina A.; Gulsvik, Amund; Hall, Ian P.; Hokanson, John E.; Jin Kim, Woo; Lomas, David A.; London, Stephanie J.; Meyers, Deborah A.; O'Connor, George T.; Rennard, Stephen I.; Schwartz, David A.; Sliwinski, Pawel; Sparrow, David; Strachan, David P.; Tal-Singer, Ruth; Tesfaigzi, Yohannes; Vestbo, J�rgen; Vonk, Judith M.; Yim, Jae-Joon; Zhou, Xiaobo; Bosse, Yohan; Manichaikul, Ani; Lahousse, Lies; Silverman, Edwin K.; Marike Boezen, H.; Wain, Louise V.; Tobin, Martin D.; Hobbs, Brian D.; Cho, Michael H.


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 L. Fingerlin

Sina A. Gharib

Amund Gulsvik

Professor of Molecular Medicine

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

J�rgen Vestbo

Judith M. Vonk

Jae-Joon Yim

Xiaobo Zhou

Yohan Bosse

Ani Manichaikul

Lies Lahousse

Edwin K. Silverman

H. Marike Boezen

Louise V. Wain

Martin D. Tobin

Brian D. Hobbs

Michael H. Cho


Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide novel 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 with P-value [less than] 5 × 10-8; 47 were previously described in association with either COPD or population-based lung function. Of the remaining 35 novel loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified enrichment for 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 of quantitative imaging features and comorbidity associations. Our analyses provide further support to the genetic susceptibility and heterogeneity of COPD.


Sakornsakolpat, P., Prokopenko, D., Lamontagne, M., Reeve, N. F., Guyatt, A. L., Jackson, V. E., …Cho, M. H. (2019). Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell type and phenotype associations. Nature Genetics, 51(3), 494–505.

Journal Article Type Article
Acceptance Date Dec 20, 2018
Online Publication Date Feb 25, 2019
Publication Date 2019-03
Deposit Date Feb 20, 2019
Publicly Available Date Aug 26, 2019
Journal Nature Genetics
Print ISSN 1061-4036
Electronic ISSN 1546-1718
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 51
Issue 3
Pages 494–505
Public URL
Publisher URL
Additional Information Additional authors: SpiroMeta Consortium, International COPD Genetics Consortium


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