Genetic drivers of liver cirrhosis: The role of SERPINA1 and PNPLA3 variants in disease onset and progression.

ABSTRACT: SERPINA1 Z and PNPLA3 G alleles are the most potent genetic risk modifiers in chronic liver disease (CLD) progression. We aimed to test the impact of concomitant carriage of these variants on the progression of CLDs of various aetiology. The cirrhosis cohort included 1583 individuals with CLD, evaluated as candidates for liver transplantation (LTx), with alcoholic-related liver disease (ALD), metabolic dysfunction-associated (MASLD), viral (VIR), autoimmune/cholestatic (AIH-CHOL), and metabolic conditions (MET). This cohort was compared to a control population of 3483 healthy individuals. The frequency of SERPINA1 MZ heterozygotes was significantly higher (p < 0.0001) in the entire cirrhosis group (84/1583; 5.3%) than in controls (89/3483; 2.6%), OR 2.57 (95% CI 1.92-3.44). The frequency o

SUBMITTER: Holinka M 

PROVIDER: S-EPMC12469243 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature