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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
PPAR-alpha L162V polymorphism in human hepatocellular carcinoma
Elif Sare Koytak1, Dilşa Mizrak, Mehmet Bektaş
1Departments of Gastroenterology and General Surgery, Ankara University, School of Medicine, Ankara.
The peroxisome proliferator-activated receptor alpha L162V polymorphism is more frequent in hepatitis B virus-induced liver cancer than in hepatitis C virus-related cases. This genetic variation may influence tumor progression in HBV-associated hepatocellular carcinoma.
Area of Science:
- Genetics
- Hepatology
- Oncology
Background:
- Peroxisome proliferator-activated receptor alpha (PPARα) is implicated in hepatocarcinogenesis.
- The L162V polymorphism in the PPARα gene increases its transactivation activity.
- Understanding PPARα L162V frequency in viral hepatitis-induced hepatocellular carcinoma (HCC) is crucial.
Purpose of the Study:
- To determine the frequency of the PPARα L162V polymorphism in patients with HCC.
- To investigate the clinical correlations of this polymorphism in HCC.
- To compare the prevalence of PPARα L162V polymorphism between hepatitis B virus (HBV) and hepatitis C virus (HCV) etiologies.
Main Methods:
- A case-control study involving 90 HCC patients and 80 healthy controls.
- PPARα L162V polymorphism was analyzed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Patient data included HCC etiology, cirrhosis status, and tumor stage.
Main Results:
- The PPARα L162V polymorphism was found in 7.2% of HCC patients and 2.5% of controls (p=0.162).
- A higher prevalence was observed in HBV-infected patients (9.7%) compared to controls (2.5%) (p=0.071).
- The polymorphism was absent in HCV-related HCC and frequently associated with advanced disease (5/6 patients).
Conclusions:
- The PPARα L162V polymorphism shows a tendency towards occurrence in HBV-induced HCC, contrasting with HCV-related HCC.
- Different carcinogenesis mechanisms may exist between HBV and HCV-induced HCC.
- The association with advanced disease suggests a role for PPARα L162V polymorphism in HCC tumor progression.
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