The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes
Open accessAbstract
RATIONALE: Chronic obstructive pulmonary disease (COPD) is defined by the presence of airflow limitation on spirometry, yet subjects with COPD can have marked differences in computed tomography imaging. These differences may be driven by genetic factors. We hypothesized that a genome-wide association study (GWAS) of quantitative imaging would identify loci not previously identified in analyses of COPD or spirometry. In addition, we sought to determine whether previously described genome-wide significant COPD and spirometric loci were associated with emphysema or airway phenotypes. OBJECTIVES: To identify genetic determinants of quantitative imaging phenotypes. METHODS: We performed a GWAS on two quantitative emphysema and two quantitative airway imaging phenotypes in the COPDGene (non-Hispanic white and African American), ECLIPSE (Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints), NETT (National Emphysema Treatment Trial), and GenKOLS (Genetics of COPD, Norway) studies and on percentage gas trapping in COPDGene. We also examined specific loci reported as genome-wide significant for spirometric phenotypes related to airflow limitation or COPD. MEASUREMENTS AND MAIN RESULTS: The total sample size across all cohorts was 12,031, of whom 9,338 were from COPDGene. We identified five loci associated with emphysema-related phenotypes, one with airway-related phenotypes, and two with gas trapping. These loci included previously reported associations, including the HHIP, 15q25, and AGER loci, as well as novel associations near SERPINA10 and DLC1. All previously reported COPD and a significant number of spirometric GWAS loci were at least nominally (P < 0.05) associated with either emphysema or airway phenotypes. CONCLUSIONS: Genome-wide analysis may identify novel risk factors for quantitative imaging characteristics in COPD and also identify imaging features associated with previously identified lung function loci.
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Citations
Cites
A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema
(2003) · New England Journal of Medicine · doi:10.1056/nejmoa030287 · Cited by 2,071
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737
Han, B., & Eskin, E. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.014 · Cited by 680
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
de Bakker, P. I. W., Ferreira, M. A. R., Jia, X., Neale, B. M., Raychaudhuri, S., & Voight, B. F. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn288 · Cited by 531
Alveolar Cell Senescence in Patients with Pulmonary Emphysema
Tsuji, T., Aoshiba, K., & Nagai, A. (2006) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200509-1374oc · Cited by 527
Segrè, A. V., DIAGRAM Consortium, MAGIC investigators, Groop, L., Mootha, V. K., Daly, M. J., & Altshuler, D. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001058 · Cited by 463
Telomere Length Is a Determinant of Emphysema Susceptibility
Alder, J. K., Guo, N., Kembou, F., Parry, E. M., Anderson, C. J., Gorgy, A. I., Walsh, M. F., Sussan, T., Biswal, S., Mitzner, W., et al. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201103-0520oc · Cited by 265
Campbell, J. D., McDonough, J. E., Zeskind, J. E., Hackett, T. L., Pechkovsky, D. V., Brandsma, C.-A., Suzuki, M., Gosselink, J. V., Liu, G., Alekseyev, Y. O., et al. (2012) · Genome Medicine · doi:10.1186/gm367 · Cited by 128
Cited by
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., et al. (2017) · Nature Genetics · doi:10.1038/ng.3752 · Cited by 398
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-citationWillis-Owen, S. A. G., Thompson, A., Kemp, P. R., Polkey, M. I., Cookson, W. O. C. M., Moffatt, M. F., & Natanek, S. A. (2018) · Scientific Reports · doi:10.1038/s41598-018-29789-6 · Cited by 42
Liang, J., Cade, B. E., He, K. Y., Wang, H., Lee, J., Sofer, T., Williams, S., Li, R., Chen, H., Gottlieb, D. J., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.10.002 · Cited by 21
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Metadata
- Authors
- Cho, M. H., Castaldi, P. J., Hersh, C. P., Hobbs, B. D., Barr, R. G., Tal-Singer, R., Bakke, P., Gulsvik, A., San José Estépar, R., Van Beek, E. J. R., Coxson, H. O., Lynch, D. A., Washko, G. R., Laird, N. M., Crapo, J. D., Beaty, T. H., & Silverman, E. K.
- Venue
- American Journal of Respiratory and Critical Care Medicine
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-09-01
- Volume
- 192
- Issue
- 5
- Pages
- 559-569
- ISSN
- 1073-449X (ISSN-L)
- 1535-4970
- OpenAlex
- W2107826773
- Cited by
- 159
- References
- 8
- FWCI
- 15.94
- Type
- journal article
- Language
- en
- Open access
- green
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- Cho, M. H., Castaldi, P. J., Hersh, C. P., Hobbs, B. D., Barr, R. G., Tal-Singer, R., Bakke, P., Gulsvik, A., San José Estépar, R., Van Beek, E. J. R., Coxson, H. O., Lynch, D. A., Washko, G. R., Laird, N. M., Crapo, J. D., Beaty, T. H., & Silverman, E. K. (2015). A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. American Journal of Respiratory and Critical Care Medicine. https://doi.org/10.1164/rccm.201501-0148oc
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