Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.

ABSTRACT:

Rationale

Genome-wide association studies (GWAS) have identified loci influencing lung function, but fewer genes influencing chronic obstructive pulmonary disease (COPD) are known.

Objectives

Perform meta-analyses of GWAS for airflow obstruction, a key pathophysiologic characteristic of COPD assessed by spirometry, in population-based cohorts examining all participants, ever smokers, never smokers, asthma-free participants, and more severe cases.

Methods

Fifteen cohorts were studied for discovery (3,368 affected; 29,507 unaffected), and a population-based family study and a meta-analysis of case-control studies were used for replication and regional follow-up (3,837 cases; 4,479 control subjects). Airflow obstruction was defined as FEV(1) and its ratio to FVC (FEV(1)/

SUBMITTER: Wilk JB 

PROVIDER: S-EPMC3480517 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature