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Analysis of the polymorphisms XRCC1Arg194Trp and XRCC1Arg399Gln in gliomas
A C Custódio1, L O Almeida, G R Pinto
1Laboratório de Oncogenética, Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil. alinecadurin@yahoo.com.br
Abstract:
XRCC genes (X-ray cross-complementing group) were discovered mainly for their roles in protecting mammalian cells against damage caused by ionizing radiation. Studies determined that these genes are important in the genetic stability of DNA. Although the loss of some of these genes does not necessarily confer high levels of sensitivity to radiation, they have been found to represent important components of various pathways of DNA repair. To ensure the integrity of the genome, a complex system of DNA repair was developed. Base excision repair is the first defense mechanism of cells against DNA damage and a major event in preventing mutagenesis. Repair genes may play an important role in maintaining genomic stability through different pathways that are mediated by base excision. In the present study, we examined XRCC1Arg194Trp and XRCC1Arg399Gln polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. Patients who had the allele Trp of the XRCC1Arg194Trp polymorphism had an increased risk of tumor development (OR = 8.80; confidence interval at 95% (95%CI) = 4.37-17.70; P < 0.001), as did the allele Gln of XRCC1Arg399Gln (OR = 1.01; 95%CI = 0.53-1.93; P = 0.971). Comparison of overall survival of patients did not show significant differences. We suggest that XRCC1Arg194Trp and XRCC1Arg399Gln polymorphisms are involved in susceptibility for developing astrocytomas and glioblastomas.
Insights
Genetic variations in XRCC1 repair genes, specifically Arg194Trp and Arg399Gln, are linked to an increased risk of developing astrocytoma and glioblastoma. These DNA repair gene polymorphisms may influence cancer susceptibility but not overall survival.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- XRCC genes (X-ray cross-complementing group) are crucial for DNA repair and maintaining genomic stability.
- Base excision repair is a primary cellular defense against DNA damage and mutagenesis.
- Understanding DNA repair gene polymorphisms is vital for assessing cancer susceptibility.
Purpose of the Study:
- To investigate the association between XRCC1 Arg194Trp and Arg399Gln polymorphisms and the risk of astrocytoma and glioblastoma.
- To evaluate the impact of these polymorphisms on patient survival.
Main Methods:
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype XRCC1 polymorphisms.
- The study analyzed 80 samples of astrocytoma and glioblastoma.
- Statistical analysis included odds ratios (OR) and confidence intervals (CI) to assess risk and survival.
Main Results:
- The XRCC1 Arg194Trp polymorphism (Trp allele) was associated with a significantly increased risk of tumor development (OR = 8.80, P < 0.001).
- The XRCC1 Arg399Gln polymorphism (Gln allele) showed a non-significant trend towards increased risk (OR = 1.01, P = 0.971).
- No significant differences in overall survival were observed between patients with different genotypes.
Conclusions:
- XRCC1 Arg194Trp and Arg399Gln polymorphisms may play a role in susceptibility to astrocytoma and glioblastoma.
- Further research is warranted to elucidate the precise mechanisms linking these DNA repair gene variants to glioma development.