Varaico: Literature-Extracted Genetic Variants

Gene:TM6SF2
Variant:p.E167K
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TM6SF2

NM_001001524.3:p.E167K

Associated Papers

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

Vilar-Gomez E et al.

Journal of Hepatology, 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

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

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

Trépo E et al.

Nature Reviews. Gastroenterology & Hepatology, 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

Genetic variants underlying precancerous conditions of hepatocellular carcinoma.

Guerrero JJG et al.

International Journal of Cancer, 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 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

Modeling Transmembrane 6 Superfamily Member 2 p.Glu167Lys-associated Steatotic Liver Disease Using Androgen-treated Human Induced Pluripotent Stem Cell-derived Hepatocyte-like Cells.

Hirai A 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

41118258 (PubMed )
Supplement: jciinsight-10-193805-s057.pdf

Newly identified single-nucleotide polymorphism associated with the transition from nonalcoholic fatty liver disease to liver fibrosis: results from a nested case-control study in the UK biobank.

Ling Y et al.

Annals of Medicine, 2025

Genetic predeterminants and recent advancements in steatotic liver disease: A roadmap toward precision hepatology.

Kumar G et al.

World Journal of Hepatology, 2025

[The role of the PNPLA3 gene rs738409 variant in the spectrum of metabolic dysfunction associated steatotic liver diseases].

Nádasdi Á et al.

Orvosi Hetilap, 2025

Modeling Familial MASH by iPSC-Hepatocytes.

Esteva-Font C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Unraveling the Role of BAG3 in Hepatic Fibrosis: Genetic and Biomarker Insights in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD).

Motta BM et al.

International Journal of Molecular Sciences, 2025

Genomic Signatures of MASLD: How Genomics Is Redefining Our Understanding of Metabolic Liver Disease.

Saliba-Gustafsson P et al.

International Journal of Molecular Sciences, 2025

Artificial intelligence as a ploy to delve into the intricate link between genetics and mitochondria in patients with MASLD.

Longo M et al.

Jhep Reports : Innovation in Hepatology, 2025

Integrative functional genomics reveals transcriptional regulatory function of risk alleles for metabolic liver disease.

Hu W et al.

Research Square, 2025

Alpha-1 antitrypsin Pi*MZ variant increases the risk of liver disease progression in MASLD and MASH.

Jermy B et al.

Annals of Hepatology, 2025

Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.

Cacciottolo TM et al.

Diabetes, 2025

40854221 (PubMed )
Supplement: db250209_supp.pdf

Genome-wide interaction study with body mass index identifies CYP7A1 and GIPR as genetic modulators of metabolic dysfunction-associated steatotic liver disease.

Jamialahmadi O et al.

Clinical and Molecular Hepatology, 2025

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

Vujkovic M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Loss of function of T-box 3 in the liver protects against MASLD.

Maher JJ

The Journal of Clinical Investigation, 2025

MAFLD: a ferroptotic disease.

Cui S et al.

Trends in Molecular Medicine, 2025

Human-induced pluripotent stem cell-based hepatic modeling of lipid metabolism-associated TM6SF2-E167K variant.

Faccioli LAP et al.

Hepatology (baltimore, Md.), 2025

Associations of Alcohol Consumption and Genetic Predisposition to Hepatic Steatosis With Liver-Related Events: Results From Large Population-Based Cohort Studies.

Xue H et al.

Gastroenterology, 2025

iPSC-Derived Hepatocytes from Patients with MASLD Exhibit Early Mitochondrial Dysfunction.

Le Guillou D et al.

Biorxiv : the Preprint Server for Biology, 2025

Contribution of PNPLA3, GCKR, MBOAT7, NCAN, and TM6SF2 Genetic Variants to Hepatocellular Carcinoma Development in Mexican Patients.

Arreola Cruz A et al.

International Journal of Molecular Sciences, 2025

Meta-Analysis: Effects of Steatotic Liver Disease-Associated Genetic Risk Alleles on Longitudinal Outcomes.

Kubina M et al.

Alimentary Pharmacology & Therapeutics, 2025

A novel human hepatocyte cell line to study PNPLA3-associated steatotic liver disease.

Huang G et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2025

VLDL lipidomics reveals hepatocellular lipidome changes in metabolic dysfunction-associated steatotic liver disease.

Guardamino Ojeda D et al.

Hepatology Communications, 2025

Interplay of PNPLA3 and TM6SF2 variants in modulating the risk of hepatocellular carcinoma among Egyptian hepatitis C patients.

Moaz IM et al.

Clinical and Experimental Hepatology, 2025

A Defective Circulating Mitochondrial Bioenergetics Profile Reflects the Hepatic One and Outlines Genetic MASLD.

Paolini E et al.

Antioxidants (basel, Switzerland), 2025

Genomic approaches to explore susceptibility and pathogenesis of alcohol use disorder and alcohol-associated liver disease.

Norden-Krichmar TM et al.

Hepatology (baltimore, Md.), 2025

Alpha-1 antitrypsin deficiency-associated liver disease: From understudied disorder to the poster child of genetic medicine.

Fromme M et al.

Hepatology Communications, 2025

Role of metabolic dysfunction-associated steatotic liver disease and of its genetics on kidney function in childhood obesity.

Di Sessa A et al.

International Journal of Obesity (2005), 2025

Downregulation of the MARC1 p.A165 risk allele reduces hepatocyte lipid content by increasing beta-oxidation.

Ciociola E et al.

Clinical and Molecular Hepatology, 2025

39716370 (PubMed )
Supplement: cmh-2024-0642-Supplementary-References.pdf

Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction-associated steatohepatitis.

Sakuma I et al.

Biorxiv : the Preprint Server for Biology, 2025

PNPLA3 I148M Interacts With Environmental Triggers to Cause Human Disease.

Speliotes EK et al.

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

Genetic Risk Factors for Metabolic Dysfunction-Associated Steatotic Liver Disease.

Pei Y et al.

Gut and Liver, 2025

Recent advances in MASLD genetics: Insights into disease mechanisms and the next frontiers in clinical application.

Chen VL et al.

Hepatology Communications, 2025

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