Monogenic and Polygenic Risk in Common Liver Diseases: Implications for Clinical Care - PubMed
3 hours ago
- #liver-disease
- #genetics
- #personalized-medicine
- Genetic predisposition significantly influences the onset, progression, and outcomes of chronic liver diseases like MASLD, MetALD, and ALD.
- Monogenic drivers are particularly relevant in specific populations, such as those with cryptogenic cirrhosis or lean MASLD.
- Polygenic risk scores (PRS) modestly improve prediction of fibrosis progression and liver-related events when combined with clinical factors, but are insufficient for population screening alone.
- Emerging therapies targeting specific genetic variants (e.g., PNPLA3, HSD17B13) are paving the way for genetically informed treatments in hepatology.
- Challenges include limited ancestral diversity in genomic data, pleiotropic effects, and the need for integration with multi-omics and electronic health records for personalized care.