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...
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| Format: | Article |
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Nature Publishing Group
2017
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| Online Access: | https://eprints.nottingham.ac.uk/44316/ |
| _version_ | 1848796888356093952 |
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| 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/ |