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

doi:10.1172/JCI201762

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Article

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

The Journal of clinical investigation - 15 Apr 2026

Mureddu Matteo, Pelusi Serena, Jamialahmadi Oveis, Vujkovic Marijana, Miano Lorenzo, Eidgah Torghabehei Hadi, Ronzoni Luisa, Malvestiti Francesco, Saracino Marco, Periti Giulia, Moretti Vittoria, Teerlink Craig C, Lynch Julie A, Tsao Philip S, Johnson Josephine P, La Mura Vincenzo, Dilena Robertino, Alqahtani Saleh A, Cherubini Alessandro, Russo Francesco Paolo, D'Ambrosio Roberta, Fraquelli Mirella, Petta Salvatore, Miele Luca, Vespasiani-Gentilucci Umberto, Bugianesi Elisabetta, Mancina Rosellina M, Parini Paolo, Prati Daniele, Chang Kyong-Mi, Schneider Carolin V, Romeo Stefano, Valenti Luca Vc

Abstract excerpt

BACKGROUNDMetabolic dysfunction-associated steatotic liver disease (MASLD) has a substantial inherited component. Rare variants in apolipoprotein B gene (APOB) have been implicated in susceptibility to liver steatosis, but their role in disease progression and outcomes is unclear.METHODSWe investigated APOB rare variants in a case-control cohort of people with advanced MASLD versus healthy controls (n = 510 and...

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Identifiers

PMID: 41665936
DOI: 10.1172/JCI201762
PMCID: PMC13078886

Genes

APOB
MVP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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