An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

ABSTRACT:

Rationale

Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology.

Objectives

The aim of this study was to use whole-exome sequencing to improve understanding of the genetic architecture of pulmonary fibrosis.

Methods

We performed a case-control exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis clinically classified as IPF according to American Thoracic Society/European Respiratory Society/Japanese Respiratory Society/Latin American Thoracic Association guidelines (81.3%), usual interstitial pneumonia secondary to autoimmune conditions (11.5%), or fibrosing nonspecific interstitial pneumonia (7.2%). The majority (87%) of case subjects reported no family history of pulmonar

SUBMITTER: Petrovski S 

PROVIDER: S-EPMC5519963 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature