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

ABSTRACT: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology.The aim of this study was to use whole-exome sequencing to improve understanding of the genetic architecture of pulmonary fibrosis.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 pulmonary fibrosis.We searched 18,668 protein-coding genes for an excess of rare deleterious genetic variation using whole-exome sequence data from 262 case subjects with pulmonary fibrosis and 4,141 control subjects drawn from among a set of individuals of European ancestry. Comparing genetic variation across 18,668 protein-coding genes, we found a study-wide significant (P?

SUBMITTER: Petrovski S 

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

REPOSITORIES: biostudies-literature