Evidence map›Paper›PMID 40691355›Full record

ArticleJournal of gastroenterology2025

The PNPLA3 I148M variant is associated with immune cell infiltration and advanced fibrosis in MASLD: a prospective genotype-phenotype study.

Jaejun Lee, Jung Hoon Cha, Hee Sun Cho, Keungmo Yang, Hyun Yang, Heechul Nam, Mi Young Byun, Seok Keun Cho, Jinsung Park, Hyuk Wan Ko and 3 more

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Article in Journal of gastroenterology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

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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

3 citing papers in PubMed.

  1. Precision pathophysiology in steatotic liver disease.Clinical and molecular hepatology · 2026
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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Jaejun Lee *Division of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Jung Hoon ChaThe Catholic University Liver Research Center, Department of Biomedicine & Health Sciences, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Hee Sun ChoDivision of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Keungmo YangDivision of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Hyun YangDivision of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Heechul NamDivision of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Mi Young ByunXenohelix Research Institute, Incheon, Republic of Korea.
Seok Keun ChoXenohelix Research Institute, Incheon, Republic of Korea.
Jinsung ParkDepartment of Biomechatronic Engineering, College of Biotechnology and Bioengineering, Sungkyunkwan University, Suwon, Republic of Korea.
Hyuk Wan KoDepartment of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Seong Wook YangDepartment of Systems Biology, Institute of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Pil Soo SungDivision of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. pssung@catholic.ac.kr.ORCID 0000-0002-5780-9607
Si Hyun BaeDivision of Hepatology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea. baesh@catholic.ac.kr.ORCID 0000-0003-1727-7842

Funding

National Foundation for Cancer Research RS-2023-00208767National Research Foundation RS-2024-00337298National Research Foundation RS-2024-00438542
6 · The paper itself

Abstract

backgroundIncreasing evidence reveals that immune cells significantly contribute to metabolic dysfunction-associated steatotic liver disease (MASLD) progression. The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M variant has been linked to hepatic inflammation and fibrosis; however, its role in immune cell infiltration and activation within the liver remains unclear.

methodsSeventy patients with MASLD were prospectively enrolled. Genomic DNA was extracted from buccal swabs or liver biopsy samples, followed by single nucleotide polymorphism genotyping to determine the rs738409 SNP genotype at codon 148 of PNPLA3. Immunohistochemistry was conducted using CD3 and CD68 antibodies to quantify T cell and macrophage infiltration, respectively. Total RNA extracted from biopsy specimens was used for quantitative reverse transcription polymerase chain reaction to assess the expression of specific markers associated with immune cell activation.

resultsAmong the 70 patients with MASLD, 34 had the GG genotype, whereas 21 and 15 had the GC and CC genotypes, respectively. The GG genotype group showed a higher proportion of advanced fibrosis (F3 or F4) than the GC + CC group (P = 0.051). GG genotype carriers exhibited significantly higher CD3

conclusionsOur findings revealed that the PNPLA3 I148M variant and increased immune cell infiltration and activation were significantly correlated within the MASLD liver. Further studies are needed to elucidate the mechanistic links between this genetic variant and liver inflammation.

Indexed as

Fatty LiverLipaseLiver CirrhosisMembrane ProteinsAcyltransferasesAdultAgedDisease ProgressionFemaleGenetic Association StudiesGenotypeHumansMacrophagesMaleMiddle AgedPhenotypeAcyltransferasesLipaseMembrane ProteinsPhospholipases A2, Calcium-IndependentPNPLA3 protein, humanImmune cellLiver fibrosisMetabolic dysfunction-associated steatotic liver diseasePNPLA3

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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.