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Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.

Hepatology (Baltimore, Md.) - 1 Apr 2024

Volkert Ines, Fromme Malin, Schneider Carolin, Candels Lena, Lindhauer Cecilia, Su Huan, Thorhauge Katrine, Pons Monica, Mohamed Mohamed Ramadan, Schneider Kai Markus, Strnad Pavel, Trautwein Christian

Abstract excerpt

BACKGROUND AND AIMS: Genetic risk factors are major determinants of chronic liver disease (CLD) progression. Patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M polymorphism and alpha-1 antitrypsin (AAT) E342K variant, termed PiZ, are major modifiers of metabolic CLD. Both variants are known to affect metabolic CLD through increased endoplasmic reticulum stress, but their combined effect on CLD...

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PMID: 37625151
DOI: 10.1097/HEP.0000000000000574

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