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Article

Influence of genetics on clinical trajectories in children with MASLD: role of the PNPLA3 I148M polymorphism.

Journal of endocrinological investigation - 1 May 2026

Di Sessa Anna, Forcina Gianmario, Cirillo Grazia, Umano Giuseppina Rosaria, De Luca Gelsomina, Marzuillo Pierluigi, Miraglia Del Giudice Emanuele

Abstract excerpt

PURPOSE: Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is increasingly prevalent in pediatric populations, especially among children with obesity. Genetic risk variants for MASLD- particularly the 148M allele of the patatin-like phospholipase domain-containing 3 (PNPLA3) gene - have been linked to various clinical outcomes and have recently led to the identification of a “liver-specific” MASLD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41653392
DOI: 10.1007/s40618-025-02789-w

Genes

PNPLA3

Variants

Provenance

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

Related research

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Influence of genetics on clinical trajectories in children with MASLD: role of the PNPLA3 I148M polymorphism.PMID 41653392Read ↗

Effect of the patatin-like phospholipase domain containing 3 gene (PNPLA3) I148M polymorphism on the risk and severity of nonalcoholic fatty liver disease and metabolic syndromes: A meta-analysis of paediatric and adolescent individuals.Semantic proximity Read ↗

Impact of PNPLA3 I148M on Clinical Outcomes in Patients With MASLD.Semantic proximity Read ↗

I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease.Semantic proximity Read ↗

Global Epidemiological Impact of PNPLA3 I148M on Liver Disease.Semantic proximity Read ↗

The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life.Semantic proximity Read ↗

PNPLA3 polymorphisms and risk of hepatic and extrahepatic outcomes in MASLD: A meta-analysis of observational studies.Semantic proximity Read ↗

Global epidemiology and implications of PNPLA3 I148M variant in MASLD: a systematic review and meta-analysisSemantic proximity Read ↗

Association of Genetic Variants in PNPLA3, MBOAT7, and MARC1 with Metabolic and Hematological Immune-Inflammation Indices in Adolescent Females with and Without MASLD: A Multilevel Risk-Allele Burden Analysis.Semantic proximity Read ↗

The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage.Semantic proximity Read ↗

Patatin-Like Phospholipase Domain-Containing Protein 3 rs2896019 and MASLD Susceptibility and Severity in Adults: A Systematic Review and Meta-Analysis of Case-Control Studies.Semantic proximity Read ↗

NAFLD and renal function in children: is there a genetic link?Semantic proximity Read ↗

PNPLA3 I148M Interacts With Environmental Triggers to Cause Human Disease.Semantic proximity Read ↗

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