CDC42: unlocking a novel therapeutic target for primary sclerosing cholangitis through Mendelian randomization.

ABSTRACT:

Objectives

This study seeks to identify new drug targets for Primary Sclerosing Cholangitis (PSC), a condition currently lacking effective treatment, to improve survival without transplantation.

Methods

We obtained summary statistics for 2,888 druggable genes and PSC from the eQTLGen Consortium and the FinnGen consortium, respectively. Through two-sample Mendelian randomization using the Inverse Variance Weighted (IVW) method, we identified genes associated with PSC at a False Discovery Rate (FDR) < 0.05. Further validation came from colocalization and Summary-data-based Mendelian Randomization (SMR) analyses, confirming the reliability of our results.

Results

Five druggable genes were causally associated with PSC at FDR < 0.05. Subsequent colocalization and SMR analy

SUBMITTER: Zhou J 

PROVIDER: S-EPMC11909534 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature