Pulmonary Fibrosis and Telomerase Dysfunction

This study was used to perform an exome-limited analysis of whole genome sequencing data of patients with idiopathic pulmonary fibrosis (IPF) or familial pulmonary fibrosis. Case cohorts were derived from local centers at University of Southwestern or Columbia University, and subjects were from the IPFnet cohort of clinical trial. Rare damaging mutations in the coding regions of cases were compared to healthy controls, and gene burden analysis was performed to identify enrichment of novel risk genes in the development of pulmonary fibrosis. ]]>
Subjects were enrolled from University of Texas Southwestern or Columbia University with clinical diagnosis of idiopathic pulmonary fibrosis or familial pulmonary fibrosis, and consented to provide genetic data. Subjects who participated in the IPFnet clinical trial cohorts had genetic data available.]]>