Dataset Information

Genome-wide association study of lung function and clinical implication in heavy smokers.

ABSTRACT: BACKGROUND:The aim of this study is to identify genetic loci associated with post-bronchodilator FEV1/FVC and FEV1, and develop a multi-gene predictive model for lung function in COPD. METHODS:Genome-wide association study (GWAS) of post-bronchodilator FEV1/FVC and FEV1 was performed in 1645 non-Hispanic White European descent smokers. RESULTS:A functional rare variant in SERPINA1 (rs28929474: Glu342Lys) was significantly associated with post-bronchodilator FEV1/FVC (p?=?1.2?×?10-?8) and FEV1 (p?=?2.1?×?10-?9). In addition, this variant was associated with COPD (OR?=?2.3; p?=?7.8?×?10-?4) and severity (OR?=?4.1; p?=?0.0036). Heterozygous subjects (CT genotype) had significantly lower lung function and higher percentage of COPD and more severe COPD than subjects with the CC genotype. 8.6% of the variance of post-bronchodilator FEV1/FVC can be explained by SNPs in 10 genes with age, sex, and pack-years of cigarette smoking (P?

SUBMITTER: Li X

PROVIDER: S-EPMC6090900 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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Genome-wide association study of lung function and clinical implication in heavy smokers.

Li Xingnan X Ortega Victor E VE Ampleford Elizabeth J EJ Graham Barr R R Christenson Stephanie A SA Cooper Christopher B CB Couper David D Dransfield Mark T MT Han Mei Lan K MLK Hansel Nadia N NN Hoffman Eric A EA Kanner Richard E RE Kleerup Eric C EC Martinez Fernando J FJ Paine Robert R Woodruff Prescott G PG Hawkins Gregory A GA Bleecker Eugene R ER Meyers Deborah A DA

BMC medical genetics 20180801 1

<h4>Background</h4>The aim of this study is to identify genetic loci associated with post-bronchodilator FEV<sub>1</sub>/FVC and FEV<sub>1</sub>, and develop a multi-gene predictive model for lung function in COPD.<h4>Methods</h4>Genome-wide association study (GWAS) of post-bronchodilator FEV<sub>1</sub>/FVC and FEV<sub>1</sub> was performed in 1645 non-Hispanic White European descent smokers.<h4>Results</h4>A functional rare variant in SERPINA1 (rs28929474: Glu342Lys) was significantly associat ...[more]

PMID: 30068317

Dataset Information

Genome-wide association study of lung function and clinical implication in heavy smokers.

Publications

Genome-wide association study of lung function and clinical implication in heavy smokers.

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