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September 28, 2025PLoS ONEOpen Access

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

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Authors

MHMikolas HolinkaCharles UniversitySFSoňa FraňkováInstitut PasteurSSSvětlana Adamcová SelčanováSlovak Medical University

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Implication

Observational analysis shows increased liver cirrhosis risk in carriers of SERPINA1 and PNPLA3 variants, suggesting genetic screening may aid in management.

Key Points

  • Individuals with SERPINA1 MZ heterozygotes had a significantly higher frequency in liver cirrhosis, highlighting its genetic risk role.
  • The PNPLA3 G allele was present in a larger proportion of cirrhosis patients compared to controls, emphasizing its impact on chronic liver disease.
  • Younger ages and higher MELD scores were observed in SERPINA1 MZ carriers, suggesting they may experience more severe disease progression.
  • These genetic variants, particularly in alcoholic-related and metabolic liver diseases, underline the importance of genetic factors in cirrhosis risk.

Cite This Study

Holinka et al. (2025) studied this question.

synapsesocial.com/papers/68d9051441e1c178a14f495fhttps://doi.org/10.1371/journal.pone.0333051
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