Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.I148M
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PNPLA3

NM_025225.3:p.I148M

Associated Papers

Genetic and non-genetic drivers of histological progression and regression in MASLD.

Vilar-Gomez E et al.

Journal of Hepatology, 2026

The SEMA7AN559Y mutation facilitates the development of metabolic dysfunction-associated steatotic liver disease by inducing ROS/NLRP3-mediated hepatic cell pyroptosis.

Zhang X et al.

Metabolism: Clinical and Experimental, 2026

Patatin-Like Phospholipase Domain Containing 3 I148M Variant Affects Hepatocellular Carcinoma Recurrence After Liver Resection.

Nakayama Y et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2026

Liver Metabolomic Profiling Reveals Distinct Signatures Between Steatosis and Metabolic Dysfunction-Associated Steatohepatitis.

Palomurto S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2026

Factors associated with protection from MASLD in type 2 diabetes: A prospective study integrating longitudinal MRI/MRE and stable isotope tracing.

Tavaglione F et al.

Jhep Reports : Innovation in Hepatology, 2026

Mycobiome dysbiosis and genetic predisposition to elevated IL-17A contribute to fibrosis in MASLD.

Thielemann N et al.

Jhep Reports : Innovation in Hepatology, 2026

41716747 (PubMed )
Supplement: mmc4.pdf

Clinically distinct metabotypes of pediatric MASLD identified through unsupervised clustering of NASH CRN data.

Huneault HE et al.

Nature Communications, 2026

Genetic modulation of omega-3 and omega-6 polyunsaturated fatty acid metabolism and health outcomes: a systematic review.

Visioli F et al.

Food & Function, 2026

Genetic Predisposition to MASLD: Potential for Therapeutic Management.

Karapanagiotidi F et al.

International Journal of Molecular Sciences, 2026

HLA DRB1*01 and *04 Predisposition to Rheumatoid Arthritis and Polymorphisms of the SLCO1B1, MTHFR and PNPLA3 Genes Are Not Associated with Fatty Liver and Hepatotoxicity.

Zekić T et al.

Journal of Clinical Medicine, 2026

Multiscale Analysis of PNPLA2 and PNPLA3 Membrane Targeting.

Kumar A et al.

Biorxiv : the Preprint Server for Biology, 2026

Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.

Yao W et al.

Genome Medicine, 2026

Germline mutations and somatic mosaicism in steatotic liver diseases and related liver carcinogenesis.

Trépo E et al.

Nature Reviews. Gastroenterology & Hepatology, 2026

Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine.

Lee CJ et al.

Stem Cell Research & Therapy, 2026

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

Di Sessa A et al.

Journal of Endocrinological Investigation, 2026

The I148M PNPLA3 Variant Forces Progressive Portal MASLD by Spatially Perturbing Metabolic Pathways Across Liver Zones.

Paolini E et al.

International Journal of Molecular Sciences, 2026

Genetic variants underlying precancerous conditions of hepatocellular carcinoma.

Guerrero JJG et al.

International Journal of Cancer, 2026

A PNPLA3-NACC1-RIPK3 pathway mediates macrophage necroptosis and inflammation in MASLD.

Wang X et al.

Hepatology Communications, 2026

Evaluation of PNPLA3 genetic variants in Egyptian HBV-infected patients concomitant with metabolic-associated steatotic liver disease (MASLD).

El-Meguid MA et al.

Diagnostic Microbiology and Infectious Disease, 2026

Genome-wide association study identifies three PNPLA3/SAMM50 SNPs associated with HCC development in non-viral liver disease.

Liu XR et al.

Jhep Reports : Innovation in Hepatology, 2026

Integration of PNPLA3 and TM6SF2 genotypes provides incremental improvement in advanced fibrosis prediction among MASLD patients with type 2 diabetes mellitus.

Kim DY et al.

Jhep Reports : Innovation in Hepatology, 2026

41624490 (PubMed )
Supplement: mmc4.pdf

Association of CYP2C19 Single Nucleotide Polymorphism With Hemorrhagic Cystitis After Pediatric Allogeneic Hematopoietic Stem Cell Transplantation.

Zhang W et al.

Clinical Transplantation, 2026

Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers.

Westerman KE et al.

Hgg Advances, 2026

40944320 (PubMed )
Supplement: mmc3.pdf

Interorganelle competition for linoleic acid underlies steatotic liver pathology.

Zhang C et al.

Biorxiv : the Preprint Server for Biology, 2026

A mitochondrial amidoxime-reducing component 1 (mARC1) A168T amino acid substitution does not confer protection from MASH and fibrosis in multiple mouse models of chronic liver disease.

Pandovski S et al.

The Biochemical Journal, 2026

Association between PNPLA3 rs738409 and susceptibility to etiology-specific liver cirrhosis: a systematic review and meta-analysis.

Yang S et al.

Bmc Medical Genomics, 2026

Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice.

Raghavan RP et al.

Journal of Personalized Medicine, 2026

Linked Intronic Polymorphisms of the PNPLA3 Gene Are Associated with Serum Markers of Liver Injury in Patients with Spontaneous HCV Clearance.

Gonzalez-Aldaco K et al.

International Journal of Molecular Sciences, 2026

Gene Editing of Pluripotent Stem Cell-Derived Hepatic Cells for Liver Disease Modeling and Therapeutic Development.

Lim D et al.

Biomolecules & Therapeutics, 2026

Association between long-term exposure to PM10 and metabolic dysfunction-associated steatotic liver disease (MASLD) in subjects with disturbed metabolic homeostasis and genotypes at risk.

Di Ciaula A et al.

European Journal of Internal Medicine, 2026

Human iPSC Models Reveal PNPLA3 Variant-Specific Lipid Pathways: Implications for Targeted Therapy in NAFLD.

Amjad A et al.

Journal of Gastroenterology and Hepatology, 2026

P NPLA3 and TM6SF2 exacerbate the impact of alcohol and metabolic dysfunction on liver fibrosis.

Gensluckner S et al.

Jhep Reports : Innovation in Hepatology, 2026

41492318 (PubMed )
Supplement: mmc1.pdf

Activation and Spatial Redistribution of RNA Splicing Factors Trigger Hepatic Regeneration.

An Y et al.

Cellular and Molecular Gastroenterology and Hepatology, 2026

41033443 (PubMed )
Supplement: mmc1.pdf

Identification of Circulating MiR-4651 as Novel Biomarker for Metabolic Dysfunction-Associated Steatotic Liver Disease.

Kirchmeyer M et al.

Gastro Hep Advances, 2026

Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.

Lou TW et al.

Journal of Clinical and Translational Hepatology, 2025

Genetic risk of alcohol-related liver cirrhosis: Associations of PNPLA3, TM6SF2, and a two-variant polygenic risk score.

Nesic B et al.

Biomolecules & Biomedicine, 2025

PNPLA3-I148M genetic variant rewires lipid metabolism to drive programmed cell death in human hepatocytes.

Florentino RM et al.

Jci Insight, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."