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Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
Open accessAbstract
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.
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Ikram, M. A., Brusselle, G. G. O., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., Stricker, B. H., et al. (2017) · European Journal of Epidemiology · doi:10.1007/s10654-017-0321-4 · Cited by 434
Self-citationSakornsakolpat, P., Prokopenko, D., Lamontagne, M., Reeve, N. F., Guyatt, A. L., Jackson, V. E., Shrine, N., Qiao, D., Bartz, T. M., Kim, D. K., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0342-2 · Cited by 384
Self-citationGenome-wide association study of susceptibility to idiopathic pulmonary fibrosis
Allen, R. J., Guillen-Guio, B., Oldham, J. M., Ma, S.-F., Dressen, A., Paynton, M. L., Kraven, L. M., Obeidat, M., Li, X., Ng, M., et al. (2020) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201905-1017oc · Cited by 329
Self-citation
Metadata
- Authors
- COPDGene Investigators, Hobbs, B. D., ECLIPSE Investigators, LifeLines Investigators, SPIROMICS Research Group, International COPD Genetics Network Investigators, UK BiLEVE Investigators, International COPD Genetics Consortium, de Jong, K., Lamontagne, M., Bossé, Y., Shrine, N., Artigas, M. S., Wain, L. V., Hall, I. P., Jackson, V. E., Wyss, A. B., London, S. J., North, K. E., Franceschini, 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., Vestbo, J., 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. S., MacNee, W., Tobin, M. D., Silverman, E. K., Boezen, H. M., & Cho, M. H.
- Venue
- Nature Genetics
- Published
- 2017-02-06
- Volume
- 49
- Issue
- 3
- Pages
- 426-432
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2558208069
- Cited by
- 398
- References
- 77
- FWCI
- 36.04
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.