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Research Paper | Synapse

February 13, 2026Open Access

Carriage of rare APOB variants predisposes to severe steatotic liver disease and hepatocellular carcinoma

MMMatteo MuredduUniversity of Milan SPSerena PelusiFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico OJOveis Jamialahmadi

Key Points

To investigate the association between rare APOB genetic variants and the risk of severe steatotic liver disease and hepatocellular carcinoma.
Genetic analysis of APOB variants in affected individuals
Comparison with control groups
Clinical assessment of liver disease severity
Identification of several rare APOB variants in patients with severe liver disease
Increased incidence of hepatocellular carcinoma among carriers of these variants
Strong correlation between rare variants and altered lipid metabolism features

Abstract

European Union, Italian Ministry of Health, Swedish Research Council, Veteran health administration, NIH.

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Cite This Study

Mureddu et al. (Tue,) studied this question.

synapsesocial.com/papers/698ebeb185a1ff6a930160b5 https://doi.org/https://doi.org/10.1172/jci201762