Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial Forms.

ABSTRACT: Background: idiopathic pulmonary fibrosis (IPF) causes progressive and irreversible changes in the lung parenchyma, leading to respiratory failure. Its pathogenesis involves several damage/repair mechanisms leading to fibrosis, whilst alterations of genes implicated in these processes contribute to the development of the disease. At present, next-generation sequencing (NGS) analyses investigate single-nucleotide or small indel variants, and no evaluation of genomic rearrangements has been so far reported. Methods: In order to identify predisposing variants, we analyzed-both by NGS and by comparative genomic hybridization/single-nucleotide polymorphism (CGH-SNP array) array-37 patients with a diagnosis of familial pulmonary fibrosis. Results: a total of 17 patients (46%

SUBMITTER: Stanghellini I 

PROVIDER: S-EPMC12838683 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature