Arrhythmias & electrophysiologyCohort study
From blood to heartbeat: Plasma proteins and Brugada syndrome revealed by Mendelian randomization
- Mendelian randomization (MR)
- pQTL proteomic data from a Finnish cohort
- inverse variance weighted (IVW) method as primary analysis
- MR-CAUSE
- protein-protein interaction (PPI) networks
- Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses
- machine learning-based model to prioritize candidate proteins
Authors' conclusion
This study provides insight into the molecular landscape of BrS and identifies high-priority plasma proteins for further investigation. Experimental and clinical validation is needed to evaluate their diagnostic and therapeutic potential.
Study context
- Population
- Finnish cohort with pQTL proteomic data; Brugada syndrome (BrS)4,185 plasma proteins evaluated
- Exposure
- causal associations between 4185 plasma proteins and BrS
Main finding
As reported in the abstract
Plasma proteins potentially associated with BrS
Plasma proteins identified as potentially associated with BrS
20
Observational data: associations, not effects.
Further findings
Sensitivity analyses
- Sensitivity analyses supported the robustness of these findings
Top candidate proteins
- HSPB1, MAPKAPK2, PDLIM4, and MMP1 emerged as top candidates based on causal strength, biological relevance, and network centrality
Original publication
From blood to heartbeat: Plasma proteins and Brugada syndrome revealed by Mendelian randomization. Heart Rhythm. Published 9 October 2025. doi:10.1016/j.hrthm.2025.09.039
Summarised from the published abstract; every number is checked against it