Genome-wide association study of copy number variations associated with pulmonary function measures in Korea Associated Resource (KARE) cohorts.
Copy number variation (CNV) is an attractive emerging approach to study the association with various diseases. We performed a CNV-based genome-wide association study of pulmonary function measures (FEV(1), FVC, and FEV(1)/FVC) in KARE cohorts. Affymetrix Genome-wide Human SNP Array 5.0 was used to measure genome-wide variation and CNV segmentation was performed using Golden Helix SVS 7.0. Single and multivariate regressions were used for the association study using the R statistical package and the Dabatase for Annotation, Visualization and Integrated (DAVID v6.7b) tool for the functional annotation. We identified significantly associated 1260 CNVs with pulmonary function measures of FEV(1) and FVC. Functional gene classification and annotation analysis found 5 highly enriched clusters, the BPI/LBP/Plunc superfamily, myosin, serpin peptidase inhibitor, protein tyrosine phosphatase, and olfactory receptors. According to the functional annotation, gene-based CNVs are likely to be involved in the pathogenesis and inflammatory responsiveness of pulmonary diseases.
Department of Agricultural Biotechnology and Research Institute for Agriculture and Life Sciences, Seoul National University, San 56-1, Sillim-dong, Gwanak-gu, Seoul 151-742, Republic of Korea. bylee613@snu.ac.kr
Bo-Young
BY
Lee
Seoae
S
Cho
Dong Hyun
DH
Shin
Heebal
H
Kim
D016000:Cluster Analysis; D015331:Cohort Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008168:Lung / Q000502:physiology*; D008171:Lung Diseases / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis; D056910:Republic of Korea; D012129:Respiratory Function Tests / Q000379:methods; D014797:Vital Capacity / Q000235:genetics*