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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 Bosse, Nick Shrine, Maria Soler Artigas, Louise V Wain, Ian P Hall, Victoria E Jackson, Annah B Wyss, et al. (2017) NATURE GENETICS. 49(3). p.426-432
abstract
Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide(1). We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P < 5 x 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(2-7), while 4 (EEFSEC, DSP, MTCL1, and SFTPD) are new. We noted two loci shared with pulmonary fibrosis(8,9) (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(10). 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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GENOME-WIDE ASSOCIATION, SURFACTANT PROTEIN-D, AIR-FLOW OBSTRUCTION, SMOKING-BEHAVIOR, COMPLEX TRAITS, I INTERFERON, VARIANTS, COPD, SUSCEPTIBILITY, EMPHYSEMA
journal title
NATURE GENETICS
Nature Genet.
volume
49
issue
3
pages
426 - 432
Web of Science type
Article
Web of Science id
000394917800016
ISSN
1061-4036
1546-1718
DOI
10.1038/ng.3752
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8537630
handle
http://hdl.handle.net/1854/LU-8537630
date created
2017-11-16 10:06:35
date last changed
2017-12-06 08:56:09
@article{8537630,
  abstract     = {Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide(1). We performed a genetic association study in 15,256 cases and 47,936 controls, with replication of select top results (P {\textlangle} 5 x 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(2-7), while 4 (EEFSEC, DSP, MTCL1, and SFTPD) are new. We noted two loci shared with pulmonary fibrosis(8,9) (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(10). 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.},
  author       = {Hobbs, Brian D and de Jong, Kim and Lamontagne, Maxime and Bosse, Yohan and Shrine, Nick and Artigas, Maria Soler and Wain, Louise V and Hall, Ian P and Jackson, Victoria E and Wyss, Annah B and London, Stephanie J and North, Kari E and Franceschini, Nora and Strachan, David P and Beaty, Terri H and Hokanson, John E and Crapo, James D and Castaldi, Peter J and Chase, Robert P and Bartz, Traci M and Heckbert, Susan R and Psaty, Bruce M and Gharib, Sina A and Zanen, Pieter and Lammers, Jan W and Oudkerk, Matthijs and Groen, HJ and Locantore, Nicholas and Tal-Singer, Ruth and Rennard, Stephen I and Vestbo, Jurgen and Timens, Wim and Pare, Peter D and Latourelle, Jeanne C and Dupuis, Josee and O'Connor, George T and Wilk, Jemma B and Kim, Woo Jin and Lee, Mi Kyeong and Oh, Yeon-Mok and Vonk, Judith M and de Koning, Harry J and Leng, Shuguang and Belinsky, Steven A and Tesfaigzi, Yohannes and Manichaikul, Ani and Wang, Xin-Qun and Rich, Stephen S and Barr, R Graham and Sparrow, David and Litonjua, Augusto A and Bakke, Per and Gulsvik, Amund and Lahousse, Lies and Brusselle, Guy and Stricker, Bruno H and Uitterlinden, Andre G and Ampleford, Elizabeth J and Bleecker, Eugene R and Woodruff, Prescott G and Meyers, Deborah A and Qiao, Dandi and Lomas, David A and Yim, Jae-Joon and Kim, Deog Kyeom and Hawrylkiewicz, Iwona and Sliwinski, Pawel and Hardin, Megan and Fingerlin, Tasha E and Schwartz, David A and Postma, Dirkje S and MacNee, William and Tobin, Martin D and Silverman, Edwin K and Boezen, H Marike and Cho, Michael H},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keyword      = {GENOME-WIDE ASSOCIATION,SURFACTANT PROTEIN-D,AIR-FLOW OBSTRUCTION,SMOKING-BEHAVIOR,COMPLEX TRAITS,I INTERFERON,VARIANTS,COPD,SUSCEPTIBILITY,EMPHYSEMA},
  language     = {eng},
  number       = {3},
  pages        = {426--432},
  title        = {Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis},
  url          = {http://dx.doi.org/10.1038/ng.3752},
  volume       = {49},
  year         = {2017},
}

Chicago
Hobbs, Brian D, Kim de Jong, Maxime Lamontagne, Yohan Bosse, Nick Shrine, Maria Soler Artigas, Louise V Wain, et al. 2017. “Genetic Loci Associated with Chronic Obstructive Pulmonary Disease Overlap with Loci for Lung Function and Pulmonary Fibrosis.” Nature Genetics 49 (3): 426–432.
APA
Hobbs, B. D., de Jong, K., Lamontagne, M., Bosse, Y., Shrine, N., Artigas, M. S., Wain, L. V., et al. (2017). Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. NATURE GENETICS, 49(3), 426–432.
Vancouver
1.
Hobbs BD, de Jong K, Lamontagne M, Bosse Y, Shrine N, Artigas MS, et al. Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. NATURE GENETICS. 2017;49(3):426–32.
MLA
Hobbs, Brian D, Kim de Jong, Maxime Lamontagne, et al. “Genetic Loci Associated with Chronic Obstructive Pulmonary Disease Overlap with Loci for Lung Function and Pulmonary Fibrosis.” NATURE GENETICS 49.3 (2017): 426–432. Print.