Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease.

ABSTRACT:

Rationale

Genome-wide association studies have shown significant associations between variants near hedgehog interacting protein HHIP, FAM13A, and cholinergic nicotinic acetylcholine receptor CHRNA3/5 with increased risk of chronic obstructive pulmonary disease (COPD) in smokers; however, the disease mechanisms behind these associations are not well understood.

Objectives

To identify the association between replicated loci and COPD-related phenotypes in well-characterized patient populations.

Methods

The relationship between these three loci and COPD-related phenotypes was assessed in the Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-point (ECLIPSE) cohort. The results were validated in the family-based International COPD Genetics Network (ICG

SUBMITTER: Pillai SG 

PROVIDER: S-EPMC3029936 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature