Candidate genes for COPD in two large data sets

P. S. Bakke, G. Zhu, A. Gulsvik, X. Kong, A. G N Agusti, P. M A Calverley, C. F. Donner, R. D. Levy, B. J. Make, P. D. Paré, S. I. Rennard, J. Vestbo, E. F M Wouters, W. Anderson, D. A. Lomas, E. K. Silverman, S. G. Pillai

    Research output: Contribution to journalArticlepeer-review


    Lack of reproducibility of findings has been a criticism of genetic association studies on complex diseases, such as chronic obstructive pulmonary disease (COPD). We selected 257 polymorphisms of 16 genes with reported or potential relationships to COPD and genotyped these variants in a case-control study that included 953 COPD cases and 956 control subjects. We explored the association of these polymorphisms to three COPD phenotypes: a COPD binary phenotype and two quantitative traits (post-bronchodilator forced expiratory volume in 1 s (FEV1) % predicted and FEV1/forced vital capacity (FVC)). The polymorphisms significantly associated to these phenotypes in this first study were tested in a second, family-based study that included 635 pedigrees with 1,910 individuals. Significant associations to the binary COPD phenotype in both populations were seen for STAT1 (rs13010343) and NFKBIB/SIRT2 (rs2241704) (p
    Original languageEnglish
    Pages (from-to)255-263
    Number of pages8
    JournalEuropean Respiratory Journal
    Issue number2
    Publication statusPublished - 1 Feb 2011


    • Chronic obstructive pulmonary disease
    • Genetic association
    • Replication
    • Smoking


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