Investigating the common genetic architecture and causality of metabolic disorders with neurodegenerative diseases
Authors' conclusion
Our findings reveal a shared genetic basis, pleiotropic loci, and potential causal relationships between metabolic dysfunction and neurodegenerative diseases. These insights highlight the biological connections underlying their phenotypic association and offer implications for future research to reduce the risk of neurodegenerative diseases.
Study context
- Population
- Four neurodegenerative diseases and seven metabolic dysfunctions28 trait pairs
- Outcome
- Shared genetic architecture of metabolic dysfunctions and neurodegenerative diseases: genetic correlations, MR causality and pleiotropic loci
Methodological detailsbidirectional Mendelian randomisation, PLACO pleiotropy analysis, functional mapping and annotation (FUMA), Bayesian colocalisation, tissue-specific expression and gene set enrichment analyses
- Bidirectional Mendelian randomisation
- PLACO pleiotropy analysis
- FUMA
- Bayesian colocalisation
- Tissue-specific expression and gene set enrichment analyses
Main finding
As reported in the abstract
- Trait pairs with significant genetic correlations
- nine out of 28
- Significant SNPs in pleiotropy analysis
- 25 931
- Pleiotropic loci identified via FUMA
- 246
- Causal loci through Bayesian colocalisation
- 55
- Unique genes linked to existing therapeutic agents (drug target analysis)
- 74
- Pathways related to lipid metabolism, cell differentiation and immune responses (gene set enrichment)
- 189
Original publication
Investigating the common genetic architecture and causality of metabolic disorders with neurodegenerative diseases. Diabetes Obes Metab. Published 20 December 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →