Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associationsCitation formats

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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. / International COPD Genetics Consortium ; Vestbo, Jørgen.

In: Nature Genetics, 2019.

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@article{bff08d95081348d4840800b604d63e33,
title = "Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations",
abstract = "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.",
author = "{International COPD Genetics Consortium} and Phuwanat Sakornsakolpat and Dmitry Prokopenko and Maxime Lamontagne and Reeve, {Nicola F.} and Guyatt, {Anna L.} and Jackson, {Victoria E.} and Nick Shrine and Dandi Qiao and Bartz, {Traci M.} and Kim, {Deog Kyeom} and Lee, {Mi Kyeong} and Latourelle, {Jeanne C.} and Xingnan Li and Morrow, {Jarrett D.} and Ma’en Obeidat and Wyss, {Annah B.} and Per Bakke and Barr, {R. Graham} and Beaty, {Terri H.} and Belinsky, {Steven A.} and Brusselle, {Guy G.} and Crapo, {James D.} and {De Jong}, Kim and Demeo, {Dawn L.} and Fingerlin, {Tasha E.} and Gharib, {Sina A.} and Amund Gulsvik and Hall, {Ian P.} and Hokanson, {John E.} and Kim, {Woo Jin} and Lomas, {David A.} and London, {Stephanie J.} and Meyers, {Deborah A.} and O’connor, {George T.} and Rennard, {Stephen I.} and Schwartz, {David A.} and Pawel Sliwinski and David Sparrow and Strachan, {David P.} and Ruth Tal-singer and Yohannes Tesfaigzi and J{\o}rgen Vestbo and Vonk, {Judith M.} and Jae-joon Yim and Xiaobo Zhou and Yohan Boss{\'e} and Ani Manichaikul and Lies Lahousse and Silverman, {Edwin K.} and Boezen, {H. Marike}",
year = "2019",
doi = "10.1038/s41588-018-0342-2",
language = "English",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Springer Nature",

}

RIS

TY - JOUR

T1 - Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

AU - International COPD Genetics Consortium

AU - Sakornsakolpat, Phuwanat

AU - Prokopenko, Dmitry

AU - Lamontagne, Maxime

AU - Reeve, Nicola F.

AU - Guyatt, Anna L.

AU - Jackson, Victoria E.

AU - Shrine, Nick

AU - Qiao, Dandi

AU - Bartz, Traci M.

AU - Kim, Deog Kyeom

AU - Lee, Mi Kyeong

AU - Latourelle, Jeanne C.

AU - Li, Xingnan

AU - Morrow, Jarrett D.

AU - Obeidat, Ma’en

AU - Wyss, Annah B.

AU - Bakke, Per

AU - Barr, R. Graham

AU - Beaty, Terri H.

AU - Belinsky, Steven A.

AU - Brusselle, Guy G.

AU - Crapo, James D.

AU - De Jong, Kim

AU - Demeo, Dawn L.

AU - Fingerlin, Tasha E.

AU - Gharib, Sina A.

AU - Gulsvik, Amund

AU - Hall, Ian P.

AU - Hokanson, John E.

AU - Kim, Woo Jin

AU - Lomas, David A.

AU - London, Stephanie J.

AU - Meyers, Deborah A.

AU - O’connor, George T.

AU - Rennard, Stephen I.

AU - Schwartz, David A.

AU - Sliwinski, Pawel

AU - Sparrow, David

AU - Strachan, David P.

AU - Tal-singer, Ruth

AU - Tesfaigzi, Yohannes

AU - Vestbo, Jørgen

AU - Vonk, Judith M.

AU - Yim, Jae-joon

AU - Zhou, Xiaobo

AU - Bossé, Yohan

AU - Manichaikul, Ani

AU - Lahousse, Lies

AU - Silverman, Edwin K.

AU - Boezen, H. Marike

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

U2 - 10.1038/s41588-018-0342-2

DO - 10.1038/s41588-018-0342-2

M3 - Article

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

ER -