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Genome-wide association studies identify locus on 6p21 influencing lung function in the Korean population

Cited 13 time in Web of Science Cited 15 time in Scopus
Authors
Kim, Woo Jin; Lee, Mi Kyeong; Shin, Chol; Cho, Nam Han; Lee, Sang Do; Oh, Yeon-Mok; Sung, Joohon
Issue Date
2014-04
Publisher
Asian Pacific Society of Respirology
Citation
Respirology Vol.19 No.3, pp. 360-368
Keywords
복합학geneticsgenome-wide association studylung functionsingle-nucleotide polymorphism.
Abstract
Background and objective : Loss of lung function is an important chronic obstructive pulmonary disease phenotypeand decreased forced expiratory volume in 1 s (FEV1) is an independent risk factor of morbidity and mortality. Genome-wide association studies (GWAS) identifying genetic variants underlying lung function have been performed mostly in Caucasian populations.In this study, we aimed to identify genetic variants influencing lung function in a Korean population.
Methods : GWAS on lung function (FEV1 and FEV1/ forced vital capacity (FVC) ratio) were performed in two cohort studies. A population-based cohort, the Korean Association Resource phase 3 (KARE3) (6223 subjects), served as a discovery set. The replication analysis was performed in a family-based cohort, the Healthy Twin Study (HTS; 2730 subjects). Dense singlenucleotidepolymorphism array data from each study were imputed and used for genetic analysis.
Results: At the discovery phase, variants in 6p21 and 17q24 showed the strongest association with FEV1/FVC ratio and FEV1. Several variants in FAM13A on 4q22 locus exhibited positive association with FEV1/FVC ratio. In the replication set, PPT2 in the 6p21 region showed significant association with lung function in the HTS, although the 4q22 locus and the 17q24 locus were not replicated.
Conclusions : We identified that PPT2 on chromosome 6p21 is associated with loss of lung function in the Korean population.
ISSN
1323-7799 (print)
1440-1843 (online)
Language
English
URI
https://hdl.handle.net/10371/91259
DOI
https://doi.org/10.1111/resp.12230
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Graduate School of Public Health (보건대학원)Dept. of Public Health (보건학과)Journal Papers (저널논문_보건학과)
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