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Volume 26
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10.3390/ijms26178426
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers

by
Pietro Torre
,
Benedetta Maria Motta
*,
Tommaso Sarcina
,
Mariano Festa
,
Mario Masarone
and
Marcello Persico
Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Via S. Allende, 84081 Baronissi, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(17), 8426; https://doi.org/10.3390/ijms26178426
Submission received: 16 July 2025 / Revised: 21 August 2025 / Accepted: 27 August 2025 / Published: 29 August 2025
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition)
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Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing public health concern influenced by both genetic and metabolic factors. Polygenic risk scores (PRSs), which combine the effects of known single-nucleotide polymorphisms (SNPs), may improve early risk stratification. We conducted an observational study on 298 MASLD patients: 148 from a Hepatology Unit and 150 from a Bariatric Surgery Unit. Genotyping was performed for the PNPLA3, TM6SF2, MBOAT7, and GCKR variants. A PRS was calculated and used to stratify patients by genetic risk. Liver fibrosis was assessed using the FIB-4 index, and a subset also underwent transient elastography. Clinical, biochemical, and anthropometric data were analyzed across genetic strata. PRSs showed positive correlations with AST, ALT, and FIB-4, indicating increased liver injury and fibrosis risk with higher genetic burden. Transaminases increased significantly across PRS quartiles (p < 0.05), and individuals with PRS > 0.532 exhibited elevated AST, ALT, and borderline FIB-4. Variant-specific associations included PNPLA3 with increased AST and MBOAT7 with higher hepatic steatosis (CAP). Subgroup analyses revealed distinct genetic and phenotypic patterns between the two clinical cohorts. These findings support the additive role of genetic risk in MASLD progression and underscore the value of polygenic profiling for the early identification and personalized management of high-risk patients.
Keywords: metabolic dysfunction-associated steatotic liver disease; polygenic risk score; liver fibrosis metabolic dysfunction-associated steatotic liver disease; polygenic risk score; liver fibrosis
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MDPI and ACS Style

Torre, P.; Motta, B.M.; Sarcina, T.; Festa, M.; Masarone, M.; Persico, M. Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers. Int. J. Mol. Sci. 2025, 26, 8426. https://doi.org/10.3390/ijms26178426

AMA Style

Torre P, Motta BM, Sarcina T, Festa M, Masarone M, Persico M. Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers. International Journal of Molecular Sciences. 2025; 26(17):8426. https://doi.org/10.3390/ijms26178426

Chicago/Turabian Style

Torre, Pietro, Benedetta Maria Motta, Tommaso Sarcina, Mariano Festa, Mario Masarone, and Marcello Persico. 2025. "Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers" International Journal of Molecular Sciences 26, no. 17: 8426. https://doi.org/10.3390/ijms26178426

APA Style

Torre, P., Motta, B. M., Sarcina, T., Festa, M., Masarone, M., & Persico, M. (2025). Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers. International Journal of Molecular Sciences, 26(17), 8426. https://doi.org/10.3390/ijms26178426

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