A genome wide association study for lung function in the Korean population using an exome array

Autor: Kyu-Sun Lee, Kun Hee Kim, Yeon-Mok Oh, Buhm Han, Woo Jin Kim
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: The Korean Journal of Internal Medicine, Vol 36, Iss Suppl 1, Pp S142-S150 (2021)
Druh dokumentu: article
ISSN: 1226-3303
2005-6648
DOI: 10.3904/kjim.2019.204
Popis: Background/Aims Lung function is an objective indicator of diagnosis and prognosis of respiratory diseases. Many common genetic variants have been associated with lung function in multiple ethnic populations. We looked for coding variants associated with forced expiratory volume in 1 second (FEV1) and FEV1/forced vital capacity (FVC) in the Korean general population. Methods We carried out exome array analysis and lung function measurements of the FEV1 and FEV1/FVC in 7,524 individuals of the Korean population. We evaluated single variants with minor allele frequency greater than 0.5%. We performed look-ups for candidate coding variants associations in the UK Biobank, SpiroMeta, and CHARGE consortia. Results We identified coding variants in the SMIM29 (C6orf1) (p = 1.2 × 10–5) and HMGA1 locus on chromosome 6p21, the GIT2 (p = 6.5 × 10–5) locus on chromosome 12q24, and the ARHGEF40 (p = 9.9 × 10–5) locus on chromosome 14q11 as having a significant association with lung function (FEV1). We also confirmed a previously reported association with lung function and chronic obstructive pulmonary disease in the FAM13A (p = 4.54 × 10–6) locus on chromosome 4q22, in TNXB (p = 1.30 × 10–6) and in AGER (p = 1.09 × 10–8) locus on chromosome 6p21. Conclusions Our exome array analysis identified that several protein coding variants were associated with lung function in the Korean population. Common coding variants in SMIM29 (C6orf1), HMGA1, GIT2, FAM13A, TNXB, AGER and low-frequency variant in ARHGEF40 potentially affect lung function, which warrant further study.
Databáze: Directory of Open Access Journals
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