The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13
Open accessAbstract
The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10(-9)). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior.
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Self-citationPrincipal components analysis corrects for stratification in genome-wide association studies
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Population Structure and Eigenanalysis
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Self-citationCommon polygenic variation contributes to risk of schizophrenia and bipolar disorder
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“Genomic inflation factors (74) were calculated using GenABEL (75).”
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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-citationThe IRP/IRE system in vivo: insights from mouse models
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Mitochondrial iron chelation ameliorates cigarette smoke–induced bronchitis and emphysema in mice
Cloonan, S. M., Glass, K., Laucho-Contreras, M. E., Bhashyam, A. R., Cervo, M., Pabón, M. A., Konrad, C., Polverino, F., Siempos, I. I., Perez, E., et al. (2016) · Nature Medicine · doi:10.1038/nm.4021 · Cited by 257
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
Metadata
- Authors
- Cho, M. H., Castaldi, P. J., Wan, E. S., Siedlinski, M., Hersh, C. P., Demeo, D. L., Himes, B. E., Sylvia, J. S., Klanderman, B. J., Ziniti, J. P., Lange, C., Litonjua, A. A., Sparrow, D., Regan, E. A., Make, B. J., Hokanson, J. E., Murray, T., Hetmanski, J. B., Pillai, S. G., Kong, X., Anderson, W. H., Tal-Singer, R., Lomas, D. A., Coxson, H. O., Edwards, L. D., MacNee, W., Vestbo, J., Yates, J. C., Agusti, A., Calverley, P. M. A., Celli, B., Crim, C., Rennard, S., Wouters, E., Bakke, P., Gulsvik, A., Crapo, J. D., Beaty, T. H., Silverman, E. K., & on behalf of the ICGN, E.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-11-11
- Volume
- 21
- Issue
- 4
- Pages
- 947-957
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2131423215
- Cited by
- 251
- References
- 20
- FWCI
- 18.31
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Cho, M. H., Castaldi, P. J., Wan, E. S., Siedlinski, M., Hersh, C. P., Demeo, D. L., Himes, B. E., Sylvia, J. S., Klanderman, B. J., Ziniti, J. P., Lange, C., Litonjua, A. A., Sparrow, D., Regan, E. A., Make, B. J., Hokanson, J. E., Murray, T., Hetmanski, J. B., Pillai, S. G., . . . on behalf of the ICGN, E. (2012). A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddr524
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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.
