Evidence mapPaperPMID 41772607Full record

ReviewBMC medical genomics2026

Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes.

Fernanda G Arriaga-González, Felipe de Jesús Castañeda-Córdova, Mauricio Díaz-Muñoz, Matthew Hoare, David J Adams, Carla Daniela Robles-Espinoza, Christian Molina-Aguilar

Abstract readReview
In one paragraph

Review in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Fernanda G Arriaga-González *Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Querétaro, México.
Felipe de Jesús Castañeda-Córdova *Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Querétaro, México.
Mauricio Díaz-MuñozInstituto de Neurobiología, Universidad Nacional Autónoma de México, Querétaro, Querétaro, México.
Matthew HoareEarly Cancer Institute, University of Cambridge, Cambridge, UK.
David J AdamsWellcome Sanger Institute, Hinxton, Cambridgeshire, CB10 1SA, UK.
Carla Daniela Robles-EspinozaLaboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Querétaro, México. drobles@liigh.unam.mx.
Christian Molina-AguilarLaboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Querétaro, México. cmolina@liigh.unam.mx.

Funding

Consejo Nacional de Humanidades, Ciencias y Tecnologías, FONDO SECTORIAL DE INVESTIGACIÓN PARA LA EDUCACIÓN A1-S-30165, I1200/169/2019• Programa de apoyo a proyectos de investigación e innovación tecnológica (PAPIIT). IN228525Programa de apoyo a proyectos de investigación e innovación tecnológica (PAPIIT). IN228525Wellcome Career Development Award 227228/Z/23/Z
6 · The paper itself

Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as NAFLD (non-alcoholic fatty liver disease), is a growing global concern, affecting nearly a third of the world’s population. This umbrella term covers a range of liver pathologies, from reversible disease stages like simple steatosis, to irreversible conditions such as cirrhosis and hepatocellular carcinoma (HCC). MASLD, which may result from metabolic risk factors like obesity and type 2 diabetes, is projected to increase due to a rise in sedentary lifestyles. This review addresses genetic influences that predispose to disease development, including the role of risk-conferring and protective/preventive alleles. The epistatic relationships between genetic variants can significantly influence the development and progression of MASLD. Key genetic variants, such as those located in the PNPLA3, TM6SF2, and MBOAT7 genes, often interact to exacerbate MASLD severity and play key roles in lipid metabolism and liver inflammation. For example, the co-expression of certain PNPLA3 and TM6SF2 variants increases the risk of advanced fibrosis and HCC. Some variants located in HSD17B13 and MTARC1 offer protective effects, reducing the risk of severe liver disease despite comorbidities such as obesity, and can mitigate the harmful effects of these risk alleles. Additionally, the potential of polygenic risk scores (PRS) to predict MASLD development and its complications is also discussed, although challenges remain, particularly in underrepresented populations due to the lack of comprehensive catalogues of genetic variation. Understanding these complex gene-gene interactions and the role of the environment underscores the importance of considering epistatic relationships when assessing MASLD risk and developing personalized therapeutic strategies, which could ease the future burden on healthcare systems.

Indexed as

Epistasis, GeneticNon-alcoholic Fatty Liver DiseaseAnimalsDisease Models, AnimalGenetic Predisposition to DiseaseHumansPhospholipases A2, Calcium-IndependentPhospholipases A2, Calcium-IndependentGenetic epistasisGenetic risk allelesMASLDProtective alleles

Identifiers

PMID41772607
PMCPMC13107761

What Socratic holds

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Registered trials

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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 Socratic graph.