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Association of XRCC1 Gene Polymorphism with an Increased Risk of Hepatocellular Carcinoma in the Peshawar Population
Rashid Saeed Abdo Hassen1,2, Wahby Mohammed Babaresh3, Irshad Ur Rehman1
1Center of Biotechnology and Microbiology, University of Peshawar, Peshawar, Pakistan.
Insights
Genetic variations in the XRCC1 gene are linked to an increased risk of hepatocellular carcinoma (HCC) in individuals with chronic hepatitis C virus (HCV) infection. This finding highlights the role of genetic factors in HCC development.
Area of Science:
- Genetics
- Hepatology
- Oncology
Background:
- Chronic hepatitis C virus (HCV) infection is a major risk factor for hepatocellular carcinoma (HCC).
- Genetic susceptibility plays a role in HCC development, but specific gene variations require further investigation.
- The XRCC1 gene is involved in DNA repair and may influence cancer risk.
Purpose of the Study:
- To investigate the association between XRCC1 gene single nucleotide polymorphisms (SNPs) and HCC risk.
- To evaluate the role of XRCC1 variations in individuals with chronic HCV infection in Peshawar.
- To determine if specific XRCC1 genotypes are linked to increased HCC incidence or tumor characteristics.
Main Methods:
- A case-control study involving 90 participants: 30 HCC patients (HCV-positive), 30 HCV-related cirrhosis patients, and 30 healthy controls.
- Genotyping of the XRCC1 gene polymorphism (rs25487) using Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR).
- Collection of detailed clinical and laboratory data, including tumor characteristics.
Main Results:
- HCC patients exhibited a significantly higher frequency of XRCC1 (AA and GA) genotypes and the A allele compared to cirrhotic and healthy controls.
- Individuals with XRCC1 (AA and GA) genotypes showed increased tumor foci and larger tumor sizes.
- Multivariate analysis indicated that the XRCC1 rs25487 polymorphism is an independent risk factor for HCC in chronic HCV patients, with a 2.66-fold increased likelihood.
Conclusions:
- XRCC1 gene polymorphism is associated with an elevated risk of developing HCC in individuals with chronic HCV infection.
- Genetic factors, specifically XRCC1 variations, are important in assessing HCC risk in this population.
- Further research into genetic predispositions can aid in personalized HCC risk assessment and management.
Objective:
This study aimed to examine the association between variations in the XRCC1 gene and the risk of hepatocellular carcinoma in individuals from Peshawar with chronic hepatitis C infection.
Methods:
The study included three groups of participants: 30 individuals with HCC resulting from chronic HCV infection, 30 participants with HCV-related cirrhosis, and 30 healthy controls. Detailed clinical and laboratory data were collected for all participants. The ARMS-PCR (Amplification Refractory Mutation System-Polymerase Chain Reaction) method was utilized to identify a single nucleotide polymorphism (SNP) in the XRCC1 gene.
Result:
The analysis revealed that HCC patients had a significantly higher occurrence of XRCC1 (AA and GA) genotypes and an increased frequency of the A allele compared to both cirrhotic HCV patients and healthy controls. Additionally, individuals with the XRCC1 (AA and GA) genotypes demonstrated greater tumor foci and larger tumor sizes. Multivariate analysis revealed that the XRCC1 rs25487 polymorphism independently contributes to a higher likelihood of developing HCC in patients with chronic HCV, with a 2.66-fold.
Conclusion:
The polymorphism of the XRCC1 gene is probably linked with an elevated risk of hepatocellular carcinoma in individuals with chronic HCV infection. These findings underscore the importance of genetic factors in assessing HCC risk.
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