BACKGROUND AND OBJECTIVE: Loss of lung function is an important chronic obstructive pulmonary disease phenotype and 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 single-nucleotide polymorphism 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.
BACKGROUND AND OBJECTIVE:Loss of lung function is an important chronic obstructive pulmonary disease phenotype and 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 single-nucleotide polymorphism 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.
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 Journal: Lung Date: 2014-04-16 Impact factor: 2.584
Authors: Boram Park; Jaehoon An; Wonji Kim; Hae Yeon Kang; Sang Baek Koh; Bermseok Oh; Keum Ji Jung; Sun Ha Jee; Woo Jin Kim; Michael H Cho; Edwin K Silverman; Taesung Park; Sungho Won Journal: Sci Rep Date: 2020-08-04 Impact factor: 4.379