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Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease

Title
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease
Authors
Lee, Jin HwaCho, Michael H.Hersh, Craig P.McDonald, Merry-Lynn N.Crapo, James D.Bakke, Per S.Gulsvik, AmundComellas, Alejandro P.Wendt, Christine H.Lomas, David A.Kim, VictorSilverman, Edwin K.Copdgene, BEclipse Investigators
Ewha Authors
이진화
SCOPUS Author ID
이진화scopus
Issue Date
2014
Journal Title
RESPIRATORY RESEARCH
ISSN
1465-993XJCR Link1465-9921JCR Link
Citation
vol. 15
Keywords
Pulmonary diseaseChronic obstructiveChronic bronchitisGenome-wide association study
Publisher
BIOMED CENTRAL LTD
Indexed
SCIE; SCOPUS WOS
Abstract
Background: Chronic bronchitis (CB) is one of the classic phenotypes of COPD. The aims of our study were to investigate genetic variants associated with COPD subjects with CB relative to smokers with normal spirometry, and to assess for genetic differences between subjects with CB and without CB within the COPD population. Methods: We analyzed data from current and former smokers from three cohorts: the COPDGene Study; GenKOLS (Bergen, Norway); and the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE). CB was defined as having a cough productive of phlegm on most days for at least 3 consecutive months per year for at least 2 consecutive years. CB COPD cases were defined as having both CB and at least moderate COPD based on spirometry. Our primary analysis used smokers with normal spirometry as controls; secondary analysis was performed using COPD subjects without CB as controls. Genotyping was performed on Illumina platforms; results were summarized using fixed-effect meta-analysis. Results: For CB COPD relative to smoking controls, we identified a new genome-wide significant locus on chromosome 11p15.5 (rs34391416, OR = 1.93, P= 4.99x 10(-8)) as well as significant associations of known COPD SNPs within FAM13A. In addition, a GWAS of CB relative to those without CB within COPD subjects showed suggestive evidence for association on 1q23.3 (rs114931935, OR = 1.88, P= 4.99 x 10(-7)). Conclusions: We found genome-wide significant associations with CB COPD on 4q22.1 (FAM13A) and 11p15.5 (EFCAB4A, CHID1 and AP2A2), and a locus associated with CB within COPD subjects on 1q23.3 (RPL31P11 and ATF6). This study provides further evidence that genetic variants may contribute to phenotypic heterogeneity of COPD.
DOI
10.1186/s12931-014-0113-2
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의학전문대학원 > 의학과 > Journal papers
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