Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development

Abstract excerpt

Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common liver disease worldwide. In recent years, several single nucleotide polymorphisms (SNPs) in genes involved in hepatic lipid metabolism (PNPLA3, TM6SF2, GCKR, MBOAT7 and HSD17B13) have been shown to significantly contribute to the emergence of the disease in association with environmental factors.1-3 Monogenic disorders leading to...

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