The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
Open accessAbstract
There is considerable variability in the susceptibility of smokers to develop chronic obstructive pulmonary disease (COPD). The only known genetic risk factor is severe deficiency of alpha(1)-antitrypsin, which is present in 1-2% of individuals with COPD. We conducted a genome-wide association study (GWAS) in a homogenous case-control cohort from Bergen, Norway (823 COPD cases and 810 smoking controls) and evaluated the top 100 single nucleotide polymorphisms (SNPs) in the family-based International COPD Genetics Network (ICGN; 1891 Caucasian individuals from 606 pedigrees) study. The polymorphisms that showed replication were further evaluated in 389 subjects from the US National Emphysema Treatment Trial (NETT) and 472 controls from the Normative Aging Study (NAS) and then in a fourth cohort of 949 individuals from 127 extended pedigrees from the Boston Early-Onset COPD population. Logistic regression models with adjustments of covariates were used to analyze the case-control populations. Family-based association analyses were conducted for a diagnosis of COPD and lung function in the family populations. Two SNPs at the alpha-nicotinic acetylcholine receptor (CHRNA 3/5) locus were identified in the genome-wide association study. They showed unambiguous replication in the ICGN family-based analysis and in the NETT case-control analysis with combined p-values of 1.48 x 10(-10), (rs8034191) and 5.74 x 10(-10) (rs1051730). Furthermore, these SNPs were significantly associated with lung function in both the ICGN and Boston Early-Onset COPD populations. The C allele of the rs8034191 SNP was estimated to have a population attributable risk for COPD of 12.2%. The association of hedgehog interacting protein (HHIP) locus on chromosome 4 was also consistently replicated, but did not reach genome-wide significance levels. Genome-wide significant association of the HHIP locus with lung function was identified in the Framingham Heart study (Wilk et al., companion article in this issue of PLoS Genetics; doi:10.1371/journal.pgen.1000429). The CHRNA 3/5 and the HHIP loci make a significant contribution to the risk of COPD. CHRNA3/5 is the same locus that has been implicated in the risk of lung cancer.
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Cites
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema
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A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
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“Association of this locus with nicotine dependence has been reported in two other studies [15,16].”
Resultα-5/α-3 nicotinic receptor subunit alleles increase risk for heavy smoking
Berrettini, W., Yuan, X., Tozzi, F., Song, K., Francks, C., Chilcoat, H., Waterworth, D., Muglia, P., & Mooser, V (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002154 · Cited by 465
Cited by
Benowitz, N. L. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0809890 · Cited by 1,508
Genetic epidemiology of copd (copdgene) study design
Regan, E. A., Hokanson, J. E., Murphy, J. R., Make, B., Lynch, D. A., Beaty, T. H., Curran-Everett, D., Silverman, E. K., & Crapo, J. D. (2011) · COPD: Journal of Chronic Obstructive Pulmonary Disease · doi:10.3109/15412550903499522 · Cited by 1,313
Self-citationUncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136
Self-citationHogan, B. L. M., Barkauskas, C. E., Chapman, H. A., Epstein, J. A., Jain, R., Hsia, C. C. W., Niklason, L., Calle, E., Le, A., Randell, S. H., et al. (2014) · Cell Stem Cell · doi:10.1016/j.stem.2014.07.012 · Cited by 876
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
Nelson, M. R., Wegmann, D., Ehm, M. G., Kessner, D., St. Jean, P., Verzilli, C., Shen, J., Tang, Z., Bacanu, S.-A., Fraser, D., et al. (2012) · Science · doi:10.1126/science.1217876 · Cited by 647
Metadata
- Authors
- Pillai, S. G., Ge, D., Zhu, G., Kong, X., Shianna, K. V., Need, A. C., Feng, S., Hersh, C. P., Bakke, P., Gulsvik, A., Ruppert, A., Lødrup Carlsen, K. C., Roses, A., Anderson, W., ICGN Investigators, Rennard, S. I., Lomas, D. A., Silverman, E. K., & Goldstein, D. B.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-03-20
- Volume
- 5
- Issue
- 3
- Pages
- e1000421
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2006720016
- Cited by
- 777
- References
- 6
- FWCI
- 60.98
- Type
- journal article
- Language
- en
- Open access
- gold
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- Pillai, S. G., Ge, D., Zhu, G., Kong, X., Shianna, K. V., Need, A. C., Feng, S., Hersh, C. P., Bakke, P., Gulsvik, A., Ruppert, A., Lødrup Carlsen, K. C., Roses, A., Anderson, W., ICGN Investigators, Rennard, S. I., Lomas, D. A., Silverman, E. K., & Goldstein, D. B. (2009). A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1000421
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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.
