Autophagic molecular network in IS pathogenesis: A multi-omics Mendelian randomization study.

ABSTRACT: This study aimed to identify autophagy-related genes with a causal role in ischemic stroke (IS) risk using a multi-omics Mendelian randomization (MR) approach. We integrated summary-level data for blood-derived DNA methylation (mQTLs), expression (eQTLs), and protein (pQTLs) quantitative trait loci for 594 autophagy-related genes with large-scale IS genome-wide association studies for discovery (GCST006908) and validation (FinnGen). Summary-data-based MR (SMR) with colocalization analysis was performed, supplemented by brain eQTL analysis, protein-protein interaction networking, and drug prediction. The analysis identified 113 mQTLs, 38 eQTLs, and 9 pQTLs associated with IS risk, with colocalization supporting shared causal variants for a subset. Validation in FinnGen confirmed 13 mQTLs an

SUBMITTER: Nie H 

PROVIDER: S-EPMC12851650 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature