Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10(-6)) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identi...

Full description

Bibliographic Details
Main Authors: Hobbs, Brian D., de Jong, Kim, Lamontagne, Maxime, Bossé, Yohan, Shrine, Nick, Artigas, María Soler, Wain, Louise V., Hall, Ian P., Jackson, Victoria E., Wyss, Annah B., London, Stephanie J., North, Kari E., Franceschini, Nora, Strachan, David P., Beaty, Terri H., Hokanson, John E., Crapo, James D., Castaldi, Peter J., Chase, Robert P., Bartz, Traci M., Heckbert, Susan R., Psaty, Bruce M., Gharib, Sina A., Zanen, Pieter, Lammers, Jan W., Oudkerk, Matthijs, Groen, H.J., Locantore, Nicholas, Tal-Singer, Ruth, Rennard, Stephen I., Vestbo, Jørgen, Timens, Wim, Paré, Peter D., Latourelle, Jeanne C., Dupuis, Josée, O'Connor, George T., Wilk, Jemma B., Kim, Woo Jin, Lee, Mi Kyeong, Oh, Yeon-Mok, Vonk, Judith M., de Koning, Harry J., Leng, Shuguang, Belinsky, Steven A., Tesfaigzi, Yohannes, Manichaikul, Ani, Wang, Xin-Qun, Rich, Stephen S., Barr, R. Graham, Sparrow, David, Litonjua, Augusto A., Bakke, Per, Gulsvik, Amund, Lahousse, Lies, Brusselle, Guy G., Stricker, Bruno H., Uitterlinden, André G., Ampleford, Elizabeth J., Bleecker, Eugene R., Woodruff, Prescott G., Meyers, Deborah A., Qiao, Dandi, Lomas, David A., Yim, Jae-Joon, Kim, Deog Kyeom, Hawrylkiewicz, Iwona, Sliwinski, Pawel, Hardin, Megan, Fingerlin, Tasha E., Schwartz, David A., Postma, Dirkje S., MacNee, William, Tobin, Martin D., Silverman, Edwin K., Boezen, H. Marike, Cho, Michael H.
Format: Article
Published: Nature Publishing Group 2017
Online Access:https://eprints.nottingham.ac.uk/44316/
_version_ 1848796888356093952
author Hobbs, Brian D.
de Jong, Kim
Lamontagne, Maxime
Bossé, Yohan
Shrine, Nick
Artigas, María Soler
Wain, Louise V.
Hall, Ian P.
Jackson, Victoria E.
Wyss, Annah B.
London, Stephanie J.
North, Kari E.
Franceschini, Nora
Strachan, David P.
Beaty, Terri H.
Hokanson, John E.
Crapo, James D.
Castaldi, Peter J.
Chase, Robert P.
Bartz, Traci M.
Heckbert, Susan R.
Psaty, Bruce M.
Gharib, Sina A.
Zanen, Pieter
Lammers, Jan W.
Oudkerk, Matthijs
Groen, H.J.
Locantore, Nicholas
Tal-Singer, Ruth
Rennard, Stephen I.
Vestbo, Jørgen
Timens, Wim
Paré, Peter D.
Latourelle, Jeanne C.
Dupuis, Josée
O'Connor, George T.
Wilk, Jemma B.
Kim, Woo Jin
Lee, Mi Kyeong
Oh, Yeon-Mok
Vonk, Judith M.
de Koning, Harry J.
Leng, Shuguang
Belinsky, Steven A.
Tesfaigzi, Yohannes
Manichaikul, Ani
Wang, Xin-Qun
Rich, Stephen S.
Barr, R. Graham
Sparrow, David
Litonjua, Augusto A.
Bakke, Per
Gulsvik, Amund
Lahousse, Lies
Brusselle, Guy G.
Stricker, Bruno H.
Uitterlinden, André G.
Ampleford, Elizabeth J.
Bleecker, Eugene R.
Woodruff, Prescott G.
Meyers, Deborah A.
Qiao, Dandi
Lomas, David A.
Yim, Jae-Joon
Kim, Deog Kyeom
Hawrylkiewicz, Iwona
Sliwinski, Pawel
Hardin, Megan
Fingerlin, Tasha E.
Schwartz, David A.
Postma, Dirkje S.
MacNee, William
Tobin, Martin D.
Silverman, Edwin K.
Boezen, H. Marike
Cho, Michael H.
author_facet Hobbs, Brian D.
de Jong, Kim
Lamontagne, Maxime
Bossé, Yohan
Shrine, Nick
Artigas, María Soler
Wain, Louise V.
Hall, Ian P.
Jackson, Victoria E.
Wyss, Annah B.
London, Stephanie J.
North, Kari E.
Franceschini, Nora
Strachan, David P.
Beaty, Terri H.
Hokanson, John E.
Crapo, James D.
Castaldi, Peter J.
Chase, Robert P.
Bartz, Traci M.
Heckbert, Susan R.
Psaty, Bruce M.
Gharib, Sina A.
Zanen, Pieter
Lammers, Jan W.
Oudkerk, Matthijs
Groen, H.J.
Locantore, Nicholas
Tal-Singer, Ruth
Rennard, Stephen I.
Vestbo, Jørgen
Timens, Wim
Paré, Peter D.
Latourelle, Jeanne C.
Dupuis, Josée
O'Connor, George T.
Wilk, Jemma B.
Kim, Woo Jin
Lee, Mi Kyeong
Oh, Yeon-Mok
Vonk, Judith M.
de Koning, Harry J.
Leng, Shuguang
Belinsky, Steven A.
Tesfaigzi, Yohannes
Manichaikul, Ani
Wang, Xin-Qun
Rich, Stephen S.
Barr, R. Graham
Sparrow, David
Litonjua, Augusto A.
Bakke, Per
Gulsvik, Amund
Lahousse, Lies
Brusselle, Guy G.
Stricker, Bruno H.
Uitterlinden, André G.
Ampleford, Elizabeth J.
Bleecker, Eugene R.
Woodruff, Prescott G.
Meyers, Deborah A.
Qiao, Dandi
Lomas, David A.
Yim, Jae-Joon
Kim, Deog Kyeom
Hawrylkiewicz, Iwona
Sliwinski, Pawel
Hardin, Megan
Fingerlin, Tasha E.
Schwartz, David A.
Postma, Dirkje S.
MacNee, William
Tobin, Martin D.
Silverman, Edwin K.
Boezen, H. Marike
Cho, Michael H.
author_sort Hobbs, Brian D.
building Nottingham Research Data Repository
collection Online Access
description Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10(-6)) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 13 new associations with COPD. Nine of these 13 loci have been associated with lung function in general population samples, while 4 (EEFSEC, DSP, MTCL1, and SFTPD) are new. We noted two loci shared with pulmonary fibrosis (FAM13A and DSP) but that had opposite risk alleles for COPD. None of our loci overlapped with genome-wide associations for asthma, although one locus has been implicated in joint susceptibility to asthma and obesity. We also identified genetic correlation between COPD and asthma. Our findings highlight new loci associated with COPD, demonstrate the importance of specific loci associated with lung function to COPD, and identify potential regions of genetic overlap between COPD and other respiratory diseases.
first_indexed 2025-11-14T19:55:08Z
format Article
id nottingham-44316
institution University of Nottingham Malaysia Campus
institution_category Local University
last_indexed 2025-11-14T19:55:08Z
publishDate 2017
publisher Nature Publishing Group
recordtype eprints
repository_type Digital Repository
spelling nottingham-443162020-05-04T18:35:52Z https://eprints.nottingham.ac.uk/44316/ Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis Hobbs, Brian D. de Jong, Kim Lamontagne, Maxime Bossé, Yohan Shrine, Nick Artigas, María Soler Wain, Louise V. Hall, Ian P. Jackson, Victoria E. Wyss, Annah B. London, Stephanie J. North, Kari E. Franceschini, Nora Strachan, David P. Beaty, Terri H. Hokanson, John E. Crapo, James D. Castaldi, Peter J. Chase, Robert P. Bartz, Traci M. Heckbert, Susan R. Psaty, Bruce M. Gharib, Sina A. Zanen, Pieter Lammers, Jan W. Oudkerk, Matthijs Groen, H.J. Locantore, Nicholas Tal-Singer, Ruth Rennard, Stephen I. Vestbo, Jørgen Timens, Wim Paré, Peter D. Latourelle, Jeanne C. Dupuis, Josée O'Connor, George T. Wilk, Jemma B. Kim, Woo Jin Lee, Mi Kyeong Oh, Yeon-Mok Vonk, Judith M. de Koning, Harry J. Leng, Shuguang Belinsky, Steven A. Tesfaigzi, Yohannes Manichaikul, Ani Wang, Xin-Qun Rich, Stephen S. Barr, R. Graham Sparrow, David Litonjua, Augusto A. Bakke, Per Gulsvik, Amund Lahousse, Lies Brusselle, Guy G. Stricker, Bruno H. Uitterlinden, André G. Ampleford, Elizabeth J. Bleecker, Eugene R. Woodruff, Prescott G. Meyers, Deborah A. Qiao, Dandi Lomas, David A. Yim, Jae-Joon Kim, Deog Kyeom Hawrylkiewicz, Iwona Sliwinski, Pawel Hardin, Megan Fingerlin, Tasha E. Schwartz, David A. Postma, Dirkje S. MacNee, William Tobin, Martin D. Silverman, Edwin K. Boezen, H. Marike Cho, Michael H. Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 × 10(-6)) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci associated at genome-wide significance, including 13 new associations with COPD. Nine of these 13 loci have been associated with lung function in general population samples, while 4 (EEFSEC, DSP, MTCL1, and SFTPD) are new. We noted two loci shared with pulmonary fibrosis (FAM13A and DSP) but that had opposite risk alleles for COPD. None of our loci overlapped with genome-wide associations for asthma, although one locus has been implicated in joint susceptibility to asthma and obesity. We also identified genetic correlation between COPD and asthma. Our findings highlight new loci associated with COPD, demonstrate the importance of specific loci associated with lung function to COPD, and identify potential regions of genetic overlap between COPD and other respiratory diseases. Nature Publishing Group 2017-02-06 Article PeerReviewed Hobbs, Brian D., de Jong, Kim, Lamontagne, Maxime, Bossé, Yohan, Shrine, Nick, Artigas, María Soler, Wain, Louise V., Hall, Ian P., Jackson, Victoria E., Wyss, Annah B., London, Stephanie J., North, Kari E., Franceschini, Nora, Strachan, David P., Beaty, Terri H., Hokanson, John E., Crapo, James D., Castaldi, Peter J., Chase, Robert P., Bartz, Traci M., Heckbert, Susan R., Psaty, Bruce M., Gharib, Sina A., Zanen, Pieter, Lammers, Jan W., Oudkerk, Matthijs, Groen, H.J., Locantore, Nicholas, Tal-Singer, Ruth, Rennard, Stephen I., Vestbo, Jørgen, Timens, Wim, Paré, Peter D., Latourelle, Jeanne C., Dupuis, Josée, O'Connor, George T., Wilk, Jemma B., Kim, Woo Jin, Lee, Mi Kyeong, Oh, Yeon-Mok, Vonk, Judith M., de Koning, Harry J., Leng, Shuguang, Belinsky, Steven A., Tesfaigzi, Yohannes, Manichaikul, Ani, Wang, Xin-Qun, Rich, Stephen S., Barr, R. Graham, Sparrow, David, Litonjua, Augusto A., Bakke, Per, Gulsvik, Amund, Lahousse, Lies, Brusselle, Guy G., Stricker, Bruno H., Uitterlinden, André G., Ampleford, Elizabeth J., Bleecker, Eugene R., Woodruff, Prescott G., Meyers, Deborah A., Qiao, Dandi, Lomas, David A., Yim, Jae-Joon, Kim, Deog Kyeom, Hawrylkiewicz, Iwona, Sliwinski, Pawel, Hardin, Megan, Fingerlin, Tasha E., Schwartz, David A., Postma, Dirkje S., MacNee, William, Tobin, Martin D., Silverman, Edwin K., Boezen, H. Marike and Cho, Michael H. (2017) Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. Nature Genetics, 49 (3). pp. 426-432. ISSN 1546-1718 http://www.nature.com/ng/journal/v49/n3/full/ng.3752.html?foxtrotcallback=true doi:10.1038/ng.3752 doi:10.1038/ng.3752
spellingShingle Hobbs, Brian D.
de Jong, Kim
Lamontagne, Maxime
Bossé, Yohan
Shrine, Nick
Artigas, María Soler
Wain, Louise V.
Hall, Ian P.
Jackson, Victoria E.
Wyss, Annah B.
London, Stephanie J.
North, Kari E.
Franceschini, Nora
Strachan, David P.
Beaty, Terri H.
Hokanson, John E.
Crapo, James D.
Castaldi, Peter J.
Chase, Robert P.
Bartz, Traci M.
Heckbert, Susan R.
Psaty, Bruce M.
Gharib, Sina A.
Zanen, Pieter
Lammers, Jan W.
Oudkerk, Matthijs
Groen, H.J.
Locantore, Nicholas
Tal-Singer, Ruth
Rennard, Stephen I.
Vestbo, Jørgen
Timens, Wim
Paré, Peter D.
Latourelle, Jeanne C.
Dupuis, Josée
O'Connor, George T.
Wilk, Jemma B.
Kim, Woo Jin
Lee, Mi Kyeong
Oh, Yeon-Mok
Vonk, Judith M.
de Koning, Harry J.
Leng, Shuguang
Belinsky, Steven A.
Tesfaigzi, Yohannes
Manichaikul, Ani
Wang, Xin-Qun
Rich, Stephen S.
Barr, R. Graham
Sparrow, David
Litonjua, Augusto A.
Bakke, Per
Gulsvik, Amund
Lahousse, Lies
Brusselle, Guy G.
Stricker, Bruno H.
Uitterlinden, André G.
Ampleford, Elizabeth J.
Bleecker, Eugene R.
Woodruff, Prescott G.
Meyers, Deborah A.
Qiao, Dandi
Lomas, David A.
Yim, Jae-Joon
Kim, Deog Kyeom
Hawrylkiewicz, Iwona
Sliwinski, Pawel
Hardin, Megan
Fingerlin, Tasha E.
Schwartz, David A.
Postma, Dirkje S.
MacNee, William
Tobin, Martin D.
Silverman, Edwin K.
Boezen, H. Marike
Cho, Michael H.
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
title Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
title_full Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
title_fullStr Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
title_full_unstemmed Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
title_short Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
title_sort genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
url https://eprints.nottingham.ac.uk/44316/
https://eprints.nottingham.ac.uk/44316/
https://eprints.nottingham.ac.uk/44316/