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Author Spotlight: Advancements and Challenges in Hepatitis B Virus Detection
Published on: December 15, 2023
Impact of methylene-tetrahydrofolate reductase gene C677T and A1298C polymorphisms as a risk factor for hepatitis B
Nevin Karakus1, Serbulent Yigit2, Mustafa Kocak1
1Departments of Medical Biology, Faculty of Medicine, Tokat Gaziosmanpasa University, Tokat, Türkiye.
Insights
The T allele of the MTHFR C677T gene polymorphism is a risk factor for Hepatitis B virus (HBV) infection in the Turkish population. Conversely, the CC-AA composite genotype offers protection against HBV infection.
Area of Science:
- Genetics
- Hepatology
- Molecular Biology
Background:
- Chronic Hepatitis B virus (HBV) infection affects over two billion people globally, with 3.3 million estimated carriers in Türkiye.
- Methylene-tetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism, impacting nucleic acid synthesis and DNA methylation.
- Common MTHFR polymorphisms, C677T and A1298C, are known to reduce enzyme activity.
Purpose of the Study:
- To investigate the association between MTHFR gene polymorphisms (C677T and A1298C) and HBV infection in a Turkish population.
- To identify potential genetic risk factors or protective elements related to HBV susceptibility.
Main Methods:
- A case-control study involving 118 HBV-infected participants and 90 healthy controls.
- Genotyping of MTHFR C677T and A1298C polymorphisms using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.
Main Results:
- The T allele and CT+TT genotypes of MTHFR C677T polymorphism were significantly more frequent in HBV-infected individuals compared to controls (p=0.015 and p=0.020, respectively).
- No significant association was found for the MTHFR A1298C polymorphism (p>0.05).
- The CC-AA composite genotype was significantly higher in healthy controls (32.2%) than in HBV-infected patients (13.6%) (p=0.001), suggesting a protective effect.
- The T-C haplotype frequency was higher in the patient group (15.8%) than in the control group (11.8%) (p=0.018).
Conclusions:
- The T allele of the MTHFR C677T polymorphism is identified as a risk factor for HBV infection in the Turkish population.
- The CC-AA composite genotype demonstrates a protective effect against HBV infection.
- The T-A haplotype may also confer a risk for HBV infection.
Abstract:
Chronic hepatitis B infection caused by Hepatitis B virus (HBV), influences over two billion people worldwide despite having an effective vaccine. With a total prevalence of 4.57%, there are 3.3 million estimated HBV carriers in Türkiye. Methylene-tetrahydrofolate reductase (MTHFR) arrange folate metabolism through nucleic acid synthesis and DNA methylation. C677T (rs1801133, p.Ala222Val) and A1298C (rs1801131, p.Glu429Ala) polymorphisms of MTHFR gene have effect of reducing the activity of enzyme. We purposed to investigate the correlation between C677T and A1298C polymorphisms of MTHFR gene with HBV infection in a Turkish population. One hundred eighteen HBV-infected participants and ninety healthy controls were incorporated in this research. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was applied to discover the genotypes of MTHFR polymorphisms. We demonstrated that T allele and CT + TT genotype frequencies of C677T polymorphism were significantly increased in HBV-infected participants than healthy controls [p = 0.015, OR (95% Cl) = 1.7 (1.11-2.79) and p = 0.020, OR (95% Cl) = 1.9 (1.10-3.42), respectively). No significant associations were noted concerning the A1298C polymorphism (p > 0.05). CC-AA composite genotype was observed to be significantly elevated in healthy controls than HBV-infected participants (32.2% vs. 13.6%, p = 0.001). In addition, the frequency of T-C haplotype was found to be considerably higher in the patient group than control group (15.8% vs 11.8%, p = 0.018). In conclusion, we found that T allele of C677T polymorphism poses a risk factor for HBV infection. We also discovered a protective impact of the CC-AA composite genotype against HBV infection and a risk effect of the T-A haplotype for HBV-infection.
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