Genetic variation reveals the therapeutic potential of BRSK2 in idiopathic pulmonary fibrosis.

ABSTRACT:

Background

Current research underscores the need to better understand the pathogenic mechanisms and treatment strategies for idiopathic pulmonary fibrosis (IPF). This study aimed to identify key targets involved in the progression of IPF.

Methods

We employed Mendelian randomization (MR) with three genome-wide association studies and four quantitative trait loci datasets to identify key driver genes for IPF. Prioritized targets were evaluated for respiratory insufficiency and transplant-free survival. The therapeutic efficacy of the core gene was validated in cellular and animal models. Additionally, we conducted a comprehensive evaluation of therapeutic value, pathogenic mechanisms, and safety through phenome-wide association study (PheWAS), mediation analysis, transcriptomi

SUBMITTER: Chen Z 

PROVIDER: S-EPMC11752817 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature