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Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis
Open accessAbstract
Background The genetic risk factors for susceptibility to chronic obstructive pulmonary disease (COPD) are still largely unknown. Additional genetic variants are likely to be identified by genome-wide association studies in larger cohorts or specific subgroups. Methods Genome-wide association analysis in COPDGene (non-Hispanic whites and African-Americans) was combined with existing data from the ECLIPSE, NETT/NAS, and GenKOLS (Norway) studies. Analyses were performed both using all moderate-to-severe cases and the subset of severe cases. Top loci not previously described as genome-wide significant were genotyped in the ICGN study, and results combined in a joint meta-analysis. Findings Analysis of a total of 6,633 moderate-to-severe cases and 5,704 controls confirmed association at three known loci: CHRNA3/CHRNA5/IREB2, FAM13A, and HHIP (10−12 < P < 10−14), and also showed significant evidence of association at a novel locus near RIN3 (overall P, including ICGN = 5•4×10−9). In the severe COPD analysis (n=3,497), the effects at two of three previously described loci were significantly stronger; we also identified two additional loci previously reported to affect gene expression of MMP12 and TGFB2 (overall P = 2•6x10−9 and 8•3×10−9). RIN3 and TGFB2 expression levels were reduced in a set of Lung Tissue Research Consortium COPD lung tissue samples compared with controls. Interpretation In a genome-wide study of COPD, we confirmed associations at three known loci and found additional genome-wide significant associations with moderate-to-severe COPD near RIN3 and with severe COPD near MMP12 and TGFB2. Genetic variants, apart from alpha-1 antitrypsin deficiency, increase the risk of COPD. Our analysis of severe COPD suggests additional genetic variants may be identified by focusing on this subgroup. Funding National Heart, Lung, and Blood Institute; the COPD Foundation through contributions from AstraZeneca, Boehringer Ingelheim, Novartis, and Sepracor; GlaxoSmithKline; Centers for Medicare and Medicaid Services; Agency for Healthcare Research and Quality; US Department of Veterans Affairs.
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Metadata
- Authors
- Cho, M. H., McDonald, M.-L. N., Zhou, X., Mattheisen, M., Castaldi, P. J., Hersh, C. P., DeMeo, D. L., Sylvia, J. S., Ziniti, J., Laird, N. M., Lange, C., Litonjua, A. A., Sparrow, D., Casaburi, R., Barr, R. G., Regan, E. A., Make, B. J., Hokanson, J. E., Lutz, S., Dudenkov, T. M., Farzadegan, H., Hetmanski, J. B., Tal-Singer, R., Lomas, D. A., Bakke, P., Gulsvik, A., Crapo, J. D., Silverman, E. K., & Beaty, T. H.
- Venue
- The Lancet Respiratory Medicine
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 2
- Issue
- 3
- Pages
- 214-225
- ISSN
- 2213-2600 (ISSN-L)
- OpenAlex
- W2005623173
- Cited by
- 347
- References
- 18
- FWCI
- 27.14
- Type
- journal article
- Language
- en
- Open access
- green
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- Cho, M. H., McDonald, M.-L. N., Zhou, X., Mattheisen, M., Castaldi, P. J., Hersh, C. P., DeMeo, D. L., Sylvia, J. S., Ziniti, J., Laird, N. M., Lange, C., Litonjua, A. A., Sparrow, D., Casaburi, R., Barr, R. G., Regan, E. A., Make, B. J., Hokanson, J. E., Lutz, S., . . . Beaty, T. H. (2014). Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. The Lancet Respiratory Medicine. https://doi.org/10.1016/s2213-2600(14)70002-5
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