Genome-wide association study of copy number variations associated with pulmonary function measures in Korea Associated Resource (KARE) cohorts

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• 作者：Bo-Young Lee^a ; ^{bylee613@snu.ac.kr} ; Seoae Cho^b ; ^{sacho71@snu.ac.kr} ; Dong Hyun Shin^a ; ^{sdh1213@gmail.com} ; Heebal Kim^a ; ^{heebal@snu.ac.kr}
• 关键词：CNV ; FEV1 ; FVC ; GWAS
• 刊名：Genomics
• 出版年：2011
• 出版时间：February 2011
• 年：2011
• 卷：97
• 期：2
• 页码：101-105
• 全文大小：257 K

文摘

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 (FEV₁, FVC, and FEV₁/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 FEV₁ 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.