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Association of Lung Function Genes with Chronic Obstructive Pulmonary Disease |
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| Authors: | Woo Jin Kim Myoung Nam Lim Yoonki Hong Edwin K. Silverman Ji-Hyun Lee Bock Hyun Jung Seung Won Ra Hye Sook Choi Young Ju Jung Yong Bum Park Myung Jae Park Sei Won Lee Jae Seung Lee Yeon-Mok Oh Sang Do Lee |
| Affiliation: | 1. Department of Internal Medicine and Environmental Health Center, Kangwon National University Hospital, School of Medicine, Kangwon National University, Chuncheon, South Korea 2. Department of Statistics, Kangwon National University, Chuncheon, South Korea 3. Channing Division of Network Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA 4. Department of Internal Medicine, CHA Bundang Medical Center, CHA University, Seongnam, South Korea 5. Department of Pulmonary and Critical Medicine, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, South Korea 6. Department of Internal Medicine, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, South Korea 7. Department of Internal Medicine, Dongguk University Gyeongju Hospital, Dongguk University College of Medicine, Gyeongju, South Korea 8. Health Promotion Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea 9. Department of Pulmonary and Critical Care Medicine, Kangdong Sacred Heart Hospital, Hallym University, Seoul, South Korea 10. Division of Respiratory and Critical Care Medicine, Kyung Hee University Hospital, Kyung Hee University, Seoul, South Korea 11. Department of Pulmonary and Critical Care Medicine, and Clinical Research Center for Chronic Obstructive Airway Diseases, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul, 138-736, Republic of Korea |
| Abstract: | BackgroundSpirometric measurements of pulmonary function are important in diagnosing and determining the severity of chronic obstructive pulmonary disease (COPD). We performed this study to determine whether candidate genes identified in genome-wide association studies of spirometric measurements were associated with COPD and if they interacted with smoking intensity.MethodsThe current analysis included 1,000 COPD subjects and 1,000 controls recruited from 24 hospital-based pulmonary clinics. Thirteen SNPs, chosen based on genome-wide association studies of spirometric measurements in the Korean population cohorts, were genotyped. Genetic association tests were performed, adjusting for age, sex, and smoking intensity, using models including a SNP-by-smoking interaction term.ResultsPID1 and FAM13A were significantly associated with COPD susceptibility. There were also significant interactions between SNPs in ACN9 and FAM13A and smoking pack-years, and an association of ACN9 with COPD in the lowest smoking tertile. The risk allele of FAM13A was associated with increased expression of FAM13A in the lung.ConclusionsWe have validated associations of FAM13A and PID1 with COPD. ACN9 showed significant interaction with smoking and is a potential candidate gene for COPD. Significant associations of genetic variants of FAM13A with gene expression levels suggest that the associated loci may act as genetic regulatory elements for FAM13A gene expression. |
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