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Title: Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
Authors: Hobbs, B. D.
de Jong, K.
Lamontagne, M.
Bossé, Y.
Shrine, Nick
Artigas, María Soler
Jackson, Victoria E.
Wain, Louise V.
Hall, I. P.
Wyss, A. B.
London, S. J.
North, K. E.
Franceschini1, N.
Strachan, D. P.
Beaty, T. H.
Hokanson, J. E.
Crapo, J. D.
Castaldi, P. J.
Chase, R. P.
Bartz, T. M.
Heckbert, S. R.
Psaty, B. M.
Gharib, S. A.
Zanen, P.
Lammers, J. W.
Oudkerk, M.
Groen, H. J.
Locantore, N.
Tal-Singer, R.
Rennard, S. I.
Timens, W.
Paré, P. D.
Latourelle, J. C.
Dupuis, J.
O'Connor, G. T.
Wilk, J. B.
Kim, W. J.
Lee, M. K.
Oh, Y.-M.
Vonk, J. M.
de Koning, H. J.
Leng, S.
Belinsky, S. A.
Tesfaigzi, Y.
Manichaikul, A.
Wang, X.-Q.
Rich, S. S.
Barr, R. G.
Sparrow, D.
Litonjua, A. A.
Bakke, P.
Gulsvik, A.
Lahousse, L.
Brusselle, G. G.
Stricker, B. H.
Uitterlinden, A. G.
Ampleford, E. J.
Bleecker, E. R.
Woodruff, P. G.
Meyers, D. A.
Qiao, D.
Lomas, D. A.
Yim, J.-J.
Kim, D. K.
Hawrylkiewicz, I.
Sliwinski, P.
Hardin, M.
Fingerlin, T. E.
Schwartz, D. A.
Postma, D.
MacNee, W.
Tobin, M. D.
Silverman1, E. K.
Boezen3, H. M.
Cho1, M. H.
COPDGene Investigators
ECLIPSE Investigators
LifeLines Investigators
SPIROMICS Research Group
International COPD Genetics Network Investigators
UK BiLEVE Investigators
International COPD Genetics Consortium
First Published: 6-Feb-2017
Publisher: Nature Publishing Group
Citation: Nature Genetics, 2017, 49, 426–432
Abstract: Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide1. We performed a genetic association in 15,256 cases and 47,936 controls, with replication of select top results (P < 5x10-6) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci at genome-wide significance, including 13 new associations with COPD. Nine of these 13 loci have been associated with lung function in general population samples2-7; however, 4 (EEFSEC, DSP, MTCL1, and SFTPD) are novel. We noted 2 loci shared with pulmonary fibrosis8,9 (FAM13A and DSP) but with opposite risk alleles for COPD. None of our loci overlapped with genome-wide associations for asthma; however, one locus has been implicated in the joint susceptibility to asthma and obesity10. We also identified genetic correlation between COPD and asthma. Our findings highlight novel loci, demonstrate the importance of specific lung function loci to COPD, and identify potential regions of genetic overlap between COPD and other respiratory diseases.
DOI Link: 10.1038/ng.3752
ISSN: 1061-4036
eISSN: 1546-1718
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Creative Commons “Attribution Non-Commercial No Derivatives” licence CC BY-NC-ND, further details of which can be found via the following link: Archived with reference to SHERPA/RoMEO and publisher website.
Description: The genome-wide association summary statistics generated in the Stage 1 analysis of the current study are available in the dbGaP repository, The Stage 2 analysis summary statistics are available in Supplementary Table 3.
Appears in Collections:Published Articles, Dept. of Health Sciences

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