Phenotypic and genetic heterogeneity among subjects with mild airflow obstruction in COPDGene.

ABSTRACT:

Background

Chronic obstructive pulmonary disease (COPD) is characterized by marked phenotypic heterogeneity. Most previous studies have focused on COPD subjects with FEV1 < 80% predicted. We investigated the clinical and genetic heterogeneity in subjects with mild airflow limitation in spirometry grade 1 defined by the Global Initiative for chronic Obstructive Lung Disease (GOLD 1).

Methods

Data from current and former smokers participating in the COPDGene Study (NCT00608764) were analyzed. K-means clustering was performed to explore subtypes within 794 GOLD 1 subjects. For all subjects with GOLD 1 and with each cluster, a genome-wide association study and candidate gene testing were performed using smokers with normal lung function as a control group. Combinations of COPD g

SUBMITTER: Lee JH 

PROVIDER: S-EPMC4253548 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature