Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.S453I
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PNPLA3

NM_025225.3:p.S453I

Associated Papers

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

Trépo E et al.

Nature Reviews. Gastroenterology & Hepatology, 2026

Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics.

Romeo S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

Molecular Characterization of Patatin-Like Phospholipase Domain-Containing 3 (PNPLA3) Gene in Alcoholic Liver Disease.

N S et al.

Cureus, 2025

Experimental Models to Investigate PNPLA3 in Liver Steatosis.

Ramandi A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

Global Epidemiological Impact of PNPLA3 I148M on Liver Disease.

Kozlitina J et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

iPSC-derived organ-on-a-chip models for personalized human genetics and pharmacogenomics studies.

Palasantzas VEJM et al.

Trends in Genetics : Tig, 2023

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.

Bloyd M et al.

Frontiers in Endocrinology, 2023

Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Park J et al.

Cell Reports. Medicine, 2022

Contribution of a genetic risk score to ethnic differences in fatty liver disease.

Kubiliun MJ et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

PNPLA3 as a therapeutic target for fatty liver disease: the evidence to date.

Cherubini A et al.

Expert Opinion on Therapeutic Targets, 2021

Allele-specific variation at APOE increases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer's disease and myocardial infarction.

Palmer ND et al.

Human Molecular Genetics, 2021

Genetic and epigenetic disease modifiers: non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD).

Choudhary NS et al.

Translational Gastroenterology and Hepatology, 2021

Genetic Polymorphisms Implicated in Nonalcoholic Liver Disease or Selected Other Disorders Have No Influence on Drug-Induced Liver Injury.

Bonkovsky HL et al.

Hepatology Communications, 2019

Obesity genetics and cardiometabolic health: Potential for risk prediction.

Sanghera DK et al.

Diabetes, Obesity & Metabolism, 2019

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Edelman D et al.

Molecular Genetics & Genomic Medicine, 2015

PNPLA3 gene polymorphism and response to lifestyle modification in patients with nonalcoholic fatty liver disease.

Shen J et al.

Journal of Gastroenterology and Hepatology, 2015

Host genetic variants in obesity-related nonalcoholic fatty liver disease.

Mehta R et al.

Clinics in Liver Disease, 2014

Hepatic patatin-like phospholipase domain-containing protein 3 sequence, single nucleotide polymorphism presence, protein confirmation, and responsiveness to energy balance in dairy cows.

McCann CC et al.

Journal of Dairy Science, 2014

PNPLA3-associated steatohepatitis: toward a gene-based classification of fatty liver disease.

Krawczyk M et al.

Seminars in Liver Disease, 2013

PNPLA3, the triacylglycerol synthesis/hydrolysis/storage dilemma, and nonalcoholic fatty liver disease.

Sookoian S et al.

World Journal of Gastroenterology, 2012

Genetic modifiers of non-alcoholic fatty liver disease progression.

Anstee QM et al.

Biochimica Et Biophysica Acta, 2011

Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease.

Huang Y et al.

The Journal of Biological Chemistry, 2011

Analysis of single nucleotide polymorphisms in case-control studies.

Li Y et al.

Methods in Molecular Biology (clifton, N.j.), 2011

A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis.

He S et al.

The Journal of Biological Chemistry, 2010

Variant in PNPLA3 is associated with alcoholic liver disease.

Tian C et al.

Nature Genetics, 2010

[Polymorphisms in adiponutrin gene and association to hepatic steatosis].

Baulande S

Medecine Sciences : M/s, 2009

[Nitric oxide and haemoglobin].

Labie D

Medecine Sciences : M/s, 2009

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

Romeo S et al.

Nature Genetics, 2008

Nonsynonymous variants and fatty liver disease.

Mohlke KL

Nature Genetics, 2008

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