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

Slavé PetrovskiJamie L ToddMichael T DurheimQuanli WangJason W ChienFran L KellyCourtney FrankelCaroline M MebaneZhong RenJoshua BridgersThomas J UrbanColin D MaloneAshley Finlen CopelandChristie BrinkleyAndrew S AllenThomas O'RiordanJohn G McHutchisonScott M PalmerDavid B Goldstein

Published in: American journal of respiratory and critical care medicine (2017)

We identified TERT, RTEL1, and PARN-three telomere-related genes previously implicated in familial pulmonary fibrosis-as significant contributors to sporadic IPF. These results support the idea that telomere dysfunction is involved in IPF pathogenesis.

Keyphrases

pulmonary fibrosis
idiopathic pulmonary fibrosis
oxidative stress
late onset
copy number