Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.

ABSTRACT:

Rationale

Emphysema is a heritable trait that occurs in smokers with and without chronic obstructive pulmonary disease. Emphysema occurs in distinct pathologic patterns, but the genetic determinants of these patterns are unknown.

Objectives

To identify genetic loci associated with distinct patterns of emphysema in smokers and investigate the regulatory function of these loci.

Methods

Quantitative measures of distinct emphysema patterns were generated from computed tomography scans from smokers in the COPDGene Study using the local histogram emphysema quantification method. Genome-wide association studies (GWAS) were performed in 9,614 subjects for five emphysema patterns, and the results were referenced against enhancer and DNase I hypersensitive regions from ENCODE a

SUBMITTER: Castaldi PJ 

PROVIDER: S-EPMC4214129 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature