Evidence map›Paper›PMID 41653392›Full record

Observational studyJournal of endocrinological investigation2026

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

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

Abstract readObservational Study
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Observational study in Journal of endocrinological investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Anna Di SessaDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy. anna.disessa@libero.it.ORCID http://orcid.org/0000-0002-5877-3757
Gianmario ForcinaDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy.
Grazia CirilloDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy.
Giuseppina Rosaria UmanoDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy.
Gelsomina De LucaDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy.
Pierluigi MarzuilloDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy.
Emanuele Miraglia Del GiudiceDepartment of Woman, Child, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, Naples, 80138, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeMetabolic 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 subtype, distinct from the classical cardiometabolic MASLD phenotype. While adult evidence shows divergent effects of this gene especially on extrahepatic outcomes, similar pediatric data in the context of MASLD remain limited.

methodsA total of 629 children with obesity and ultrasound-detected MASLD were evaluated. Patients were classified according to the presence/absence of the 148M allele of PNPLA3 gene. Kidney damage (KD) was defined as reduced estimated glomerular filtration rate (eGFR < 90mL/min/1.73m2), while subclinical hypothyroidism (SH) was defined by thyroid stimulating hormone (TSH) > 4.5µUI/ml with normal free triiodothyronine and free thyroxine levels. Hepatic fibrosis was estimated through an indirect measure such as Pediatric NAFLD Fibrosis Index (PNFI). Prediabetes was defined according to diagnostic criteria.

resultsThe 148M allele of PNPLA3 was associated with lower eGFR and higher TSH, glycaemia, and PNFI values (all p < 0.05). Carriers showed an adjusted odds ratio of 1.67 for fibrosis, 2.24 for SH, 3.74 for KD, and 1.09 for prediabetes, respectively (all p < 0.05).

conclusionThe 148M allele of PNPLA3 influences hepatic and extrahepatic outcomes in children with MASLD. Although preliminary, these data suggest that genetic stratification could enhance risk prediction and guide personalized monitoring and treatment strategies in pediatric MASLD.

Indexed as

AcyltransferasesGenetic Predisposition to DiseaseNon-alcoholic Fatty Liver DiseasePhospholipases A2, Calcium-IndependentPolymorphism, GeneticAdolescentAllelesChildChild, PreschoolFemaleGenetic Risk ScoreGlomerular Filtration RateHumansHypothyroidismKidney DiseasesLiver CirrhosisAcyltransferasesPhospholipases A2, Calcium-IndependentPNPLA3 protein, humanThyrotropinChildrenExtrahepaticHepaticLiver-specific subtypeMetabolic dysfunction-associated steatotic liver diseaseOutcomesPatatin-like phospholipase domain-containing 3

Identifiers

PMID41653392

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.