Genotype-First Approach Identifies an Association between rs28374544/FOG2^S657G and Liver Disease through Alterations in mTORC1 Signaling.

ABSTRACT: Metabolic dysfunction-associated Fatty Liver Disease (MAFLD) has emerged as one of the leading cardiometabolic diseases. Friend of GATA2 (FOG2) is a transcriptional co-regulator that has been shown to regulate hepatic lipid metabolism and accumulation. Using meta-analysis from several different biobank datasets, we identified a coding variant of FOG2 (rs28374544, A1969G, S657G) predominantly found in individuals of African ancestry (minor allele frequency~20%), which is associated with liver failure/cirrhosis phenotype and liver injury. To gain insight into potential pathways associated with this variant, we interrogated a previously published genomics dataset of 38 human induced pluripotent stem cell (iPSCs) lines differentiated into hepatocytes (iHeps). Using Differential Gene Expression

SUBMITTER: Conlon DM 

PROVIDER: S-EPMC11353451 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature