Article
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.
The Lancet. Respiratory medicine - 1 Jun 2025
Alonso-González Aitana, Jáspez David, Lorenzo-Salazar José M, Ma Shwu-Fan, Strickland Emma, Mychaleckyj Josyf, Kim John S, Huang Yong, Adegunsoye Ayodeji, Oldham Justin M, Stewart Iain, Molyneaux Philip L, Maher Toby M, Wain Louise V, Allen Richard J, Gisli Jenkins R, Kropski Jonathan A, Yaspan Brian, Blackwell Timothy S, Zhang David, Garcia Christine Kim, Martinez Fernando J, Noth Imre, Flores Carlos
Abstract excerpt
BACKGROUND: Rare pathogenic variants in telomere-related genes are associated with poorer clinical outcomes in idiopathic pulmonary fibrosis (IPF). We aimed to assess whether rare qualifying variants in monogenic adult-onset pulmonary fibrosis genes are associated with IPF survival. Using polygenic risk scores (PRS), we also evaluated the influence of common IPF risk variants in patients carrying the qualifying...
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