Manuel Mattheisen

DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. / Lee, Jin Hwa; McDonald, Merry-Lynn N; Cho, Michael H; Wan, Emily S; Castaldi, Peter J; Hunninghake, Gary M; Marchetti, Nathaniel; Lynch, David A; Crapo, James D; Lomas, David A; Coxson, Harvey O; Bakke, Per S; Silverman, Edwin K; Hersh, Craig P; COPDGene and ECLIPSE Investigators ; Mattheisen, Manuel.

In: Respiratory Research Review, Vol. 15, 2014, p. 97.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Lee, JH, McDonald, M-LN, Cho, MH, Wan, ES, Castaldi, PJ, Hunninghake, GM, Marchetti, N, Lynch, DA, Crapo, JD, Lomas, DA, Coxson, HO, Bakke, PS, Silverman, EK, Hersh, CP, COPDGene and ECLIPSE Investigators & Mattheisen, M 2014, 'DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease', Respiratory Research Review, vol. 15, pp. 97. https://doi.org/10.1186/s12931-014-0097-y

APA

Lee, J. H., McDonald, M-L. N., Cho, M. H., Wan, E. S., Castaldi, P. J., Hunninghake, G. M., Marchetti, N., Lynch, D. A., Crapo, J. D., Lomas, D. A., Coxson, H. O., Bakke, P. S., Silverman, E. K., Hersh, C. P., COPDGene and ECLIPSE Investigators, & Mattheisen, M. (2014). DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. Respiratory Research Review, 15, 97. https://doi.org/10.1186/s12931-014-0097-y

CBE

Lee JH, McDonald M-LN, Cho MH, Wan ES, Castaldi PJ, Hunninghake GM, Marchetti N, Lynch DA, Crapo JD, Lomas DA, Coxson HO, Bakke PS, Silverman EK, Hersh CP, COPDGene and ECLIPSE Investigators, Mattheisen M. 2014. DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. Respiratory Research Review. 15:97. https://doi.org/10.1186/s12931-014-0097-y

MLA

Vancouver

Lee JH, McDonald M-LN, Cho MH, Wan ES, Castaldi PJ, Hunninghake GM et al. DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. Respiratory Research Review. 2014;15:97. https://doi.org/10.1186/s12931-014-0097-y

Author

Lee, Jin Hwa ; McDonald, Merry-Lynn N ; Cho, Michael H ; Wan, Emily S ; Castaldi, Peter J ; Hunninghake, Gary M ; Marchetti, Nathaniel ; Lynch, David A ; Crapo, James D ; Lomas, David A ; Coxson, Harvey O ; Bakke, Per S ; Silverman, Edwin K ; Hersh, Craig P ; COPDGene and ECLIPSE Investigators ; Mattheisen, Manuel. / DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. In: Respiratory Research Review. 2014 ; Vol. 15. pp. 97.

Bibtex

@article{259b849cf9544865972a7ed4ca880b49,
title = "DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease",
abstract = "BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by expiratory flow limitation, causing air trapping and lung hyperinflation. Hyperinflation leads to reduced exercise tolerance and poor quality of life in COPD patients. Total lung capacity (TLC) is an indicator of hyperinflation particularly in subjects with moderate-to-severe airflow obstruction. The aim of our study was to identify genetic variants associated with TLC in COPD.METHODS: We performed genome-wide association studies (GWASs) in white subjects from three cohorts: the COPDGene Study; the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); and GenKOLS (Bergen, Norway). All subjects were current or ex-smokers with at least moderate airflow obstruction, defined by a ratio of forced expiratory volume in 1 second to forced vital capacity (FEV1/FVC) <0.7 and FEV1 < 80% predicted on post-bronchodilator spirometry. TLC was calculated by using volumetric computed tomography scans at full inspiration (TLCCT). Genotyping in each cohort was completed, with statistical imputation of additional markers. To find genetic variants associated with TLCCT, linear regression models were used, with adjustment for age, sex, pack-years of smoking, height, and principal components for genetic ancestry. Results were summarized using fixed-effect meta-analysis.RESULTS: Analysis of a total of 4,543 COPD subjects identified one genome-wide significant locus on chromosome 5p15.2 (rs114929486, β = 0.42L, P = 4.66 × 10-8).CONCLUSIONS: In COPD, TLCCT was associated with a SNP in dynein, axonemal, heavy chain 5 (DNAH5), a gene in which genetic variants can cause primary ciliary dyskinesia. DNAH5 could have an effect on hyperinflation in COPD.",
author = "Lee, {Jin Hwa} and McDonald, {Merry-Lynn N} and Cho, {Michael H} and Wan, {Emily S} and Castaldi, {Peter J} and Hunninghake, {Gary M} and Nathaniel Marchetti and Lynch, {David A} and Crapo, {James D} and Lomas, {David A} and Coxson, {Harvey O} and Bakke, {Per S} and Silverman, {Edwin K} and Hersh, {Craig P} and {COPDGene and ECLIPSE Investigators} and Manuel Mattheisen",
year = "2014",
doi = "10.1186/s12931-014-0097-y",
language = "English",
volume = "15",
pages = "97",
journal = "Respiratory Research Review",
issn = "1178-6205",
publisher = "Research Review Ltd.",

}

RIS

TY - JOUR

T1 - DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease

AU - Lee, Jin Hwa

AU - McDonald, Merry-Lynn N

AU - Cho, Michael H

AU - Wan, Emily S

AU - Castaldi, Peter J

AU - Hunninghake, Gary M

AU - Marchetti, Nathaniel

AU - Lynch, David A

AU - Crapo, James D

AU - Lomas, David A

AU - Coxson, Harvey O

AU - Bakke, Per S

AU - Silverman, Edwin K

AU - Hersh, Craig P

AU - COPDGene and ECLIPSE Investigators

AU - Mattheisen, Manuel

PY - 2014

Y1 - 2014

N2 - BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by expiratory flow limitation, causing air trapping and lung hyperinflation. Hyperinflation leads to reduced exercise tolerance and poor quality of life in COPD patients. Total lung capacity (TLC) is an indicator of hyperinflation particularly in subjects with moderate-to-severe airflow obstruction. The aim of our study was to identify genetic variants associated with TLC in COPD.METHODS: We performed genome-wide association studies (GWASs) in white subjects from three cohorts: the COPDGene Study; the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); and GenKOLS (Bergen, Norway). All subjects were current or ex-smokers with at least moderate airflow obstruction, defined by a ratio of forced expiratory volume in 1 second to forced vital capacity (FEV1/FVC) <0.7 and FEV1 < 80% predicted on post-bronchodilator spirometry. TLC was calculated by using volumetric computed tomography scans at full inspiration (TLCCT). Genotyping in each cohort was completed, with statistical imputation of additional markers. To find genetic variants associated with TLCCT, linear regression models were used, with adjustment for age, sex, pack-years of smoking, height, and principal components for genetic ancestry. Results were summarized using fixed-effect meta-analysis.RESULTS: Analysis of a total of 4,543 COPD subjects identified one genome-wide significant locus on chromosome 5p15.2 (rs114929486, β = 0.42L, P = 4.66 × 10-8).CONCLUSIONS: In COPD, TLCCT was associated with a SNP in dynein, axonemal, heavy chain 5 (DNAH5), a gene in which genetic variants can cause primary ciliary dyskinesia. DNAH5 could have an effect on hyperinflation in COPD.

AB - BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by expiratory flow limitation, causing air trapping and lung hyperinflation. Hyperinflation leads to reduced exercise tolerance and poor quality of life in COPD patients. Total lung capacity (TLC) is an indicator of hyperinflation particularly in subjects with moderate-to-severe airflow obstruction. The aim of our study was to identify genetic variants associated with TLC in COPD.METHODS: We performed genome-wide association studies (GWASs) in white subjects from three cohorts: the COPDGene Study; the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); and GenKOLS (Bergen, Norway). All subjects were current or ex-smokers with at least moderate airflow obstruction, defined by a ratio of forced expiratory volume in 1 second to forced vital capacity (FEV1/FVC) <0.7 and FEV1 < 80% predicted on post-bronchodilator spirometry. TLC was calculated by using volumetric computed tomography scans at full inspiration (TLCCT). Genotyping in each cohort was completed, with statistical imputation of additional markers. To find genetic variants associated with TLCCT, linear regression models were used, with adjustment for age, sex, pack-years of smoking, height, and principal components for genetic ancestry. Results were summarized using fixed-effect meta-analysis.RESULTS: Analysis of a total of 4,543 COPD subjects identified one genome-wide significant locus on chromosome 5p15.2 (rs114929486, β = 0.42L, P = 4.66 × 10-8).CONCLUSIONS: In COPD, TLCCT was associated with a SNP in dynein, axonemal, heavy chain 5 (DNAH5), a gene in which genetic variants can cause primary ciliary dyskinesia. DNAH5 could have an effect on hyperinflation in COPD.

U2 - 10.1186/s12931-014-0097-y

DO - 10.1186/s12931-014-0097-y

M3 - Journal article

C2 - 25134640

VL - 15

SP - 97

JO - Respiratory Research Review

JF - Respiratory Research Review

SN - 1178-6205

ER -