Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease.

ABSTRACT:

Rationale

Genomic regions identified by genome-wide association studies explain only a small fraction of heritability for chronic obstructive pulmonary disease (COPD). Alpha-1 antitrypsin deficiency shows that rare coding variants of large effect also influence COPD susceptibility. We hypothesized that exome sequencing in families identified through a proband with severe, early-onset COPD would identify additional rare genetic determinants of large effect.

Objectives

To identify rare genetic determinants of severe COPD.

Methods

We applied filtering approaches to identify potential causal variants for COPD in whole exomes from 347 subjects in 49 extended pedigrees from the Boston Early-Onset COPD Study. We assessed the power of this approach under different levels of g

SUBMITTER: Qiao D 

PROVIDER: S-EPMC4910887 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature