Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.

ABSTRACT:

Background

Idiopathic pulmonary fibrosis (IPF) is a devastating disease that probably involves several genetic loci. Several rare genetic variants and one common single nucleotide polymorphism (SNP) of MUC5B have been associated with the disease. Our aim was to identify additional common variants associated with susceptibility and ultimately mortality in IPF.

Methods

First, we did a three-stage genome-wide association study (GWAS): stage one was a discovery GWAS; and stages two and three were independent case-control studies. DNA samples from European-American patients with IPF meeting standard criteria were obtained from several US centres for each stage. Data for European-American control individuals for stage one were gathered from the database of genotypes and phenotypes

SUBMITTER: Noth I 

PROVIDER: S-EPMC3894577 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature