Evidence mapPaperPMID 39559944Full record

ReviewLiver international : official journal of the International Association for the Study of the Liver2025

PNPLA3 I148M Interacts With Environmental Triggers to Cause Human Disease.

Elizabeth K Speliotes, Carolin Victoria Schneider

Abstract readReview
In one paragraph

Review in Liver international : official journal of the International Association for the Study of the Liver, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Selenium and Liver Steatosis and Fibrosis: Opposing Direct and Steatosis-Mediated Associations in a Large Cohort.JGH open : an open access journal of gastroenterology and hepatology · 2026
    Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Article
  11. Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics.Liver international : official journal of the International Association for the Study of the Liver · 2025
    Review
  12. Article
  13. Review
  14. Review
  15. Review
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

2 authors.

Elizabeth K SpeliotesDivision of Gastroenterology and Hepatology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.ORCID 0000-0002-1002-4140
Carolin Victoria SchneiderDepartment of Gastroenterology, Endocrinology and Intensive Care, RWTH Aachen University, Aachen, Germany.ORCID 0000-0002-6728-9246

Funding

Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3M
Human population based genetic studies to elucidate the biology of NAFLDR01DK107904 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SPELIOTES, ELIZABETH K · 2016 to 2020
$3.4M
Identification and functional impact of NAFLD associated genetic variantsR01DK106621 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SPELIOTES, ELIZABETH K · 2015 to 2019
$3.3M
Integrative Polygenic Genetic Studies of Non-alcoholic Fatty Liver DiseaseR01DK131787 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SPELIOTES, ELIZABETH K · 2022 to 2025
$2.7M
CSR NIH HHS R01 DK1CSR NIH HHS R01 DK106621CSR NIH HHS R01 DK107904CSR NIH HHS R01 DK131787Deutsche ForschungsgemeinschaftInterdisciplinary Centre for Clinical Research within the faculty of Medicine at the RWTH Aachen University PTD 1-13/IA 532313Junior Principal Investigator Fellowship program of RWTH Aachen Excellence strategyNIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK106621NIDDK NIH HHS R01 DK107904NIDDK NIH HHS R01 DK131787NRW Rueckkehr Programme of the Ministry of Culture and Science of the German State of North Rhine-WestphaliaThe University of Michigan Department of Internal Medicine and the University of Michigan MBIOFar Program
6 · The paper itself

Abstract

backgroundMetabolic dysfunction-associated steatotic liver disease (MASLD) affects up to 30% of Western populations. While obesity is a recognized risk factor, MASLD does not develop in all obese individuals, highlighting the need to understand genetic and environmental interactions. The PNPLA3 I148M variant has been identified as a key genetic risk factor, significantly increasing the likelihood of MASLD development and progression.

methodsWe reviewed current literature on the role of PNPLA3 I148M in MASLD, focusing on gene-environment interactions involving diet, physical activity, obesity, and insulin resistance. We included studies analysing ethnic differences in PNPLA3 I148M prevalence and its association with MASLD. Additionally, we reviewed data on how PNPLA3 I148M influences the response to therapies, including lipid-lowering medications and GLP-1 agonists.

resultsThe PNPLA3 I148M variant markedly heightens MASLD risk, particularly in Hispanic populations, where a higher prevalence of MASLD is observed. Lifestyle factors such as high sugar intake, alcohol consumption, and physical inactivity exacerbate MASLD risk among I148M carriers. Evidence shows that insulin resistance amplifies MASLD risk associated with the I148M variant, especially in non-diabetic individuals. Moreover, the PNPLA3 I148M variant interacts with other genetic loci, further modifying MASLD risk and disease course. The variant also influences treatment response, with variability observed in effectiveness of lipid-lowering therapies and GLP-1 agonists among carriers.

conclusionThe interplay between PNPLA3 I148M and environmental factors underscores the need for personalized MASLD prevention and treatment strategies. Targeting both genetic and lifestyle contributors may enhance MASLD management, offering a tailored approach to reducing disease burden.

Indexed as

Fatty LiverGene-Environment InteractionLipaseMembrane ProteinsAcyltransferasesDietExerciseGenetic Predisposition to DiseaseHumansInsulin ResistanceLife StyleObesityPhospholipases A2, Calcium-IndependentRisk FactorsAcyltransferasesLipaseMembrane ProteinsPhospholipases A2, Calcium-IndependentPNPLA3 protein, humangene–environment interactionliver disease progressionMASLDpersonalised therapyPNPLA3

Identifiers

PMID39559944
PMCPMC11815600

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.