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 signif

SUBMITTER: Li X 

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

REPOSITORIES: biostudies-literature