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

Brian D. Hobbs, Kim De Jong, Maxime Lamontagne, Yohan Bossé, Nick Shrine, María Soler Artigas, Louise V. Wain, Ian P. Hall, Victoria E. Jackson, Annah B. Wyss, Stephanie J. London, Kari E. North, Nora Franceschini, David P. Strachan, Terri H. Beaty, John E. Hokanson, James D. Crapo, Peter J. Castaldi, Robert P. Chase, Traci M. BartzSusan R. Heckbert, Bruce M. Psaty, Sina A. Gharib, Pieter Zanen, Jan W. Lammers, Matthijs Oudkerk, H. J. Groen, Nicholas Locantore, Ruth Tal-Singer, Stephen I. Rennard, Jørgen Vestbo, Wim Timens, Peter D. Paré, Jeanne C. Latourelle, Josée Dupuis, George T. O'Connor, Jemma B. Wilk, Woo Jin Kim, Mi Kyeong Lee, Yeon Mok Oh, Judith M. Vonk, Harry J. De Koning, Shuguang Leng, Steven A. Belinsky, Yohannes Tesfaigzi, Ani Manichaikul, Xin Qun Wang, Stephen S. Rich, R. Graham Barr, David Sparrow, Augusto A. Litonjua, Per Bakke, Amund Gulsvik, Lies Lahousse, Guy G. Brusselle, Bruno H. Stricker, André G. Uitterlinden, Elizabeth J. Ampleford, Eugene R. Bleecker, Prescott G. Woodruff, Deborah A. Meyers, Dandi Qiao, David A. Lomas, Jae Joon Yim, Deog Kyeom Kim, Iwona Hawrylkiewicz, Pawel Sliwinski, Megan Hardin, Tasha E. Fingerlin, David A. Schwartz, Dirkje S. Postma, William Macnee, Martin D. Tobin, Edwin K. Silverman, H. Marike Boezen, Michael H. Cho

Research output: Contribution to journalArticlepeer-review

140 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)426-432
Number of pages7
JournalNature genetics
Issue number3
StatePublished - Mar 1 2017

ASJC Scopus subject areas

  • Genetics


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