{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nie H"],"funding":["Key Research and Development Program of the Department of Science and Technology of Ningxia Hui Autonomous Region"],"pagination":["e47249"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12851650"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["105(4)"],"pubmed_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"],"journal":["Medicine"],"pubmed_title":["Autophagic molecular network in IS pathogenesis: A multi-omics Mendelian randomization study."],"pmcid":["PMC12851650"],"funding_grant_id":["2021BEG03074"],"pubmed_authors":["Hei Y","Zhang M","Zhang L","Ma T","Xu X","Nie H"],"additional_accession":[]},"is_claimable":false,"name":"Autophagic molecular network in IS pathogenesis: A multi-omics Mendelian randomization study.","description":"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","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-12T10:17:06.074Z","creation":"2026-06-12T03:12:16.952Z"},"accession":"S-EPMC12851650","cross_references":{"pubmed":["41578456"],"doi":["10.1097/MD.0000000000047249"]}}