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

TitleGenetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.
Publication TypeJournal Article
Year of Publication2017
AuthorsHobbs, BD, de Jong, K, Lamontagne, M, Bossé, Y, Shrine, N, Artigas, MS, Wain, LV, Hall, IP, Jackson, VE, Wyss, AB, London, SJ, North, KE, Franceschini, N, Strachan, DP, Beaty, TH, Hokanson, JE, Crapo, JD, Castaldi, PJ, Chase, RP, Bartz, TM, Heckbert, SR, Psaty, BM, Gharib, SA, Zanen, P, Lammers, JW, Oudkerk, M, Groen, HJ, Locantore, N, Tal-Singer, R, Rennard, SI, Vestbo, J, Timens, W, Paré, PD, Latourelle, JC, Dupuis, J, O'Connor, GT, Wilk, JB, Kim, WJin, Lee, MKyeong, Oh, Y-M, Vonk, JM, de Koning, HJ, Leng, S, Belinsky, SA, Tesfaigzi, Y, Manichaikul, A, Wang, X-Q, Rich, SS, R Barr, G, Sparrow, D, Litonjua, AA, Bakke, P, Gulsvik, A, Lahousse, L, Brusselle, GG, Stricker, BH, Uitterlinden, AG, Ampleford, EJ, Bleecker, ER, Woodruff, PG, Meyers, DA, Qiao, D, Lomas, DA, Yim, J-J, Kim, DKyeom, Hawrylkiewicz, I, Sliwinski, P, Hardin, M, Fingerlin, TE, Schwartz, DA, Postma, DS, MacNee, W, Tobin, MD, Silverman, EK, H Boezen, M, Cho, MH
Corporate/Institutional AuthorsCOPDGene Investigators, ECLIPSE Investigators, LifeLines Investigators, SPIROMICS Research Group, International COPD Genetics Network Investigators, UK BiLEVE Investigators, International COPD Genetics Consortium
JournalNat Genet
Volume49
Issue3
Pagination426-432
Date Published2017 Mar
ISSN1546-1718
Abstract<p>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.</p>
DOI10.1038/ng.3752
Alternate JournalNat. Genet.
PubMed ID28166215
PubMed Central IDPMC5381275
Grant ListR01 HL113264 / HL / NHLBI NIH HHS / United States
R01 HL089897 / HL / NHLBI NIH HHS / United States
K08 HL097029 / HL / NHLBI NIH HHS / United States
R01 HL077612 / HL / NHLBI NIH HHS / United States
R01 HL075478 / HL / NHLBI NIH HHS / United States
R01 HL089856 / HL / NHLBI NIH HHS / United States
R01 HL093081 / HL / NHLBI NIH HHS / United States
P01 HL105339 / HL / NHLBI NIH HHS / United States
R01 HL126596 / HL / NHLBI NIH HHS / United States
K01 HL129039 / HL / NHLBI NIH HHS / United States
G0902313 / / Medical Research Council / United Kingdom
R01 HL124233 / HL / NHLBI NIH HHS / United States
R01 HL084323 / HL / NHLBI NIH HHS / United States
P01 HL114501 / HL / NHLBI NIH HHS / United States
T32 HL007427 / HL / NHLBI NIH HHS / United States
ePub date: 
17/02