Integrative analyses elucidate transcriptional regulatory functions of risk alleles for metabolic liver disease - PubMed
3 hours ago
- #Genetic Risk Variants
- #Genomic Regulation
- #Metabolic Liver Disease
- Integrative analyses map chromatin accessibility in human MASLD liver, showing risk variants in cell-type-specific regulatory regions.
- Massively parallel reporter assays identify differential activity variants (DAVs) that function dependently on cell type and stimulus, affecting liver disease networks.
- Integration of eQTL data, chromatin looping, and CRISPR screening assigns target genes to DAVs, influencing gene expression, lipid metabolism, and stellate cell activation.
- DAVs at loci such as SLC22A3, APOA5, ANGPTL3, and LPL enhance the prediction of MASLD risk, linking noncoding genetic variation to disease mechanisms.