Related Experiment Video
Updated: May 26, 2026

A Three-Dimensional Spheroid Model to Investigate the Tumor-Stromal Interaction in Hepatocellular Carcinoma
Published on: September 30, 2021
Increased fibrosis progression rates in hepatitis C patients carrying the prothrombin G20210A mutation
Nitsan Maharshak1, Philippe Halfon, Varda Deutsch
1Department of Gastroenterology and Liver diseases, Tel Aviv Sourasky Medical Center, affiliated to the Sackler School of Medicine, Tel Aviv University, 64239 Tel Aviv, Israel. nitsan_maharshak@walla.com
Insights
Hepatitis C virus (HCV) patients with the prothrombin 20210 (PT20210) mutation show faster liver fibrosis progression. Other mutations like MTHFR or Factor V Leiden did not impact fibrosis rates in this study.
Area of Science:
- Hepatology
- Genetics
- Virology
Background:
- Liver fibrosis is a significant complication in chronic Hepatitis C virus (HCV) infection.
- Hypercoagulable mutations are genetic predispositions that increase blood clot formation.
- Understanding genetic factors influencing fibrosis progression is crucial for patient management.
Purpose of the Study:
- To investigate the association between common hypercoagulable mutations and the rate of liver fibrosis in HCV-infected patients.
- To determine if specific genetic mutations accelerate liver damage in the context of HCV infection.
Main Methods:
- DNA analysis of 168 HCV patients for prothrombin 20210 (PT20210), factor V Leiden (FV Leiden), and MTHFR mutations.
- Statistical analysis correlating mutation carriage with liver fibrosis rates, using liver biopsy data.
- Correlation with epidemiological, clinical, and biochemical data.
Main Results:
- Fifty-two patients were classified as "fast fibrosers" and 116 as "slow fibrosers".
- The PT20210 mutation was present in 13% of fast fibrosers versus 5.5% of slow fibrosers (OR 4.76, P=0.033).
- No significant association was found between MTHFR or FV Leiden mutations and accelerated liver fibrosis.
Conclusions:
- Carriage of the PT20210 mutation is significantly associated with an increased rate of liver fibrosis in HCV patients.
- PT20210 mutation may serve as a predictive marker for rapid fibrosis progression in HCV.
- MTHFR and FV Leiden mutations do not appear to influence liver fibrosis rates in this HCV cohort.
Aim:
To examine whether hepatitis C virus (HCV)-infected patients who carry hypercoagulable mutations suffer from increased rates of liver fibrosis.
Methods:
We analyzed DNA samples of 168 HCV patients for three common hypercoagulable gene mutations: prothrombin 20210 (PT20210), factor V Leiden (FV Leiden) and methylene tetrahydrofolate reductase (MTHFR). The patients were consecutively recruited as part of the prospective "Fibroscore Study" in France. The effect of the various mutations on the rate of fibrosis was analyzed statistically and was correlated with epidemiological, clinical and biochemical data such as grade and stage of liver biopsies, patients' risk factors for liver cirrhosis, and timing of infection.
Results:
Fifty two of the patients were categorized as "fast fibrosers" and 116 as "slow fibrosers"; 13% of the "fast fibrosers" carried the PT20210 mutation as compared with 5.5% of the "slow fibrosers", with an odds ratio of 4.76 (P = 0.033; 95% CI: 1.13-19.99) for "fast" liver fibrosis. Carriage of MTHFR or FV Leiden mutations was not associated with enhanced liver fibrosis.
Conclusion:
Carriage of the PT20210 mutation is related to an increased rate of liver fibrosis in HCV patients.
Related Concept Videos
Cirrhosis II: Pathophysiology
Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
