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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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<0.05). Single-nucleotide polymorphisms rs17467825 and rs1155563 of the GC gene were significantly associated with FEV1 % predicted and FEV1/FVC, respectively, in both populations (p<0.05). This study has replicated associations to COPD phenotypes in the STAT1, NFKBIB/SIRT2 and GC genes in two independent populations, the associations of the former two genes representing novel findings.
OriginalsprogEngelsk
TidsskriftEuropean Respiratory Journal
Vol/bind37
Udgave nummer2
Sider (fra-til)255-263
Antal sider9
ISSN0903-1936
DOI
StatusUdgivet - 1. feb. 2011
Udgivet eksterntJa

Fingeraftryk

Chronic Obstructive Pulmonary Disease
Forced Expiratory Volume
Population
Genetic Association Studies
Pedigree
Datasets
Reproducibility of Results
Single Nucleotide Polymorphism

Emneord

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

Citer dette

Bakke, P. S., Zhu, G., Gulsvik, A., Kong, X., Agusti, A. G. N., Calverley, P. M. A., ... Pillai, S. G. (2011). Candidate genes for COPD in two large data sets. European Respiratory Journal, 37(2), 255-263. https://doi.org/10.1183/09031936.00091709
Bakke, P. S. ; Zhu, G. ; Gulsvik, A. ; Kong, X. ; Agusti, A. G N ; Calverley, P. M A ; Donner, C. F. ; Levy, R. D. ; Make, B. J. ; Paré, P. D. ; Rennard, S. I. ; Vestbo, J. ; Wouters, E. F M ; Anderson, W. ; Lomas, D. A. ; Silverman, E. K. ; Pillai, S. G. / Candidate genes for COPD in two large data sets. I: European Respiratory Journal. 2011 ; Bind 37, Nr. 2. s. 255-263.
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abstract = "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<0.05). Single-nucleotide polymorphisms rs17467825 and rs1155563 of the GC gene were significantly associated with FEV1 {\%} predicted and FEV1/FVC, respectively, in both populations (p<0.05). This study has replicated associations to COPD phenotypes in the STAT1, NFKBIB/SIRT2 and GC genes in two independent populations, the associations of the former two genes representing novel findings.",
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Bakke, PS, Zhu, G, Gulsvik, A, Kong, X, Agusti, AGN, Calverley, PMA, Donner, CF, Levy, RD, Make, BJ, Paré, PD, Rennard, SI, Vestbo, J, Wouters, EFM, Anderson, W, Lomas, DA, Silverman, EK & Pillai, SG 2011, 'Candidate genes for COPD in two large data sets', European Respiratory Journal, bind 37, nr. 2, s. 255-263. https://doi.org/10.1183/09031936.00091709

Candidate genes for COPD in two large data sets. / Bakke, P. S.; Zhu, G.; Gulsvik, A.; Kong, X.; Agusti, A. G N; Calverley, P. M A; Donner, C. F.; Levy, R. D.; Make, B. J.; Paré, P. D.; Rennard, S. I.; Vestbo, J.; Wouters, E. F M; Anderson, W.; Lomas, D. A.; Silverman, E. K.; Pillai, S. G.

I: European Respiratory Journal, Bind 37, Nr. 2, 01.02.2011, s. 255-263.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Candidate genes for COPD in two large data sets

AU - Bakke, P. S.

AU - Zhu, G.

AU - Gulsvik, A.

AU - Kong, X.

AU - Agusti, A. G N

AU - Calverley, P. M A

AU - Donner, C. F.

AU - Levy, R. D.

AU - Make, B. J.

AU - Paré, P. D.

AU - Rennard, S. I.

AU - Vestbo, J.

AU - Wouters, E. F M

AU - Anderson, W.

AU - Lomas, D. A.

AU - Silverman, E. K.

AU - Pillai, S. G.

PY - 2011/2/1

Y1 - 2011/2/1

N2 - 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<0.05). Single-nucleotide polymorphisms rs17467825 and rs1155563 of the GC gene were significantly associated with FEV1 % predicted and FEV1/FVC, respectively, in both populations (p<0.05). This study has replicated associations to COPD phenotypes in the STAT1, NFKBIB/SIRT2 and GC genes in two independent populations, the associations of the former two genes representing novel findings.

AB - 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<0.05). Single-nucleotide polymorphisms rs17467825 and rs1155563 of the GC gene were significantly associated with FEV1 % predicted and FEV1/FVC, respectively, in both populations (p<0.05). This study has replicated associations to COPD phenotypes in the STAT1, NFKBIB/SIRT2 and GC genes in two independent populations, the associations of the former two genes representing novel findings.

KW - Chronic obstructive pulmonary disease

KW - Genetic association

KW - Replication

KW - Smoking

U2 - 10.1183/09031936.00091709

DO - 10.1183/09031936.00091709

M3 - Journal article

VL - 37

SP - 255

EP - 263

JO - European Respiratory Journal

JF - European Respiratory Journal

SN - 0903-1936

IS - 2

ER -

Bakke PS, Zhu G, Gulsvik A, Kong X, Agusti AGN, Calverley PMA et al. Candidate genes for COPD in two large data sets. European Respiratory Journal. 2011 feb 1;37(2):255-263. https://doi.org/10.1183/09031936.00091709