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Abstract
Introduction. Gastric cancer (GC) development as a multifactorial disease is associated with the cumulative influence of multiple genes, including DNA repair genes ERCC1 and ERCC2. Several published studies have established a significant role of polymorphisms in these genes in the development of various oncological diseases, including GC. Given this, the most studied and clinically significant polymorphisms of ERCC1 and ERCC2 genes were selected for the present study. Alterations in these genes may serve as biomarkers for early diagnosis of GC.
Aim. To investigate the association between single nucleotide polymorphisms in DNA excision repair genes ERCC1 (rs11615, rs3212986) and ERCC2 (rs13181) and susceptibility to GC in Kyrgyz population.
Materials and Methods. The study included 124 GC patients. The control group consisted of 138 healthy individuals. DNA was extracted from blood leukocytes, and its concentration and purity were assessed using spectrophotometry. Genotyping was performed using competitive allele-specific PCR. Amplicon melting curve analysis was used to verify specificity. Based on the analysis of 30 samples, control genotypes were determined and used for high-resolution melting analysis. Only results with sample-reference genotype concordance exceeding 95% were included in the analysis.
Results. A significant increase in the frequency of the homozygous rs3212986 CC genotype and the rs3212986 C allele was found in GC patients compared to the control group. These genotypes are associated with an increased risk of cancer. Conversely, the CA genotype and A allele may reduce the likelihood of disease, serving a protective role, particularly in men.
Conclusion. A significant association was established between the minor homozygous rs3212986 CC genotype and the major C allele of the ERCC1 gene with increased gastric cancer risk. A protective effect was also identified for the heterozygous CA genotype and A allele, which is associated with decreased disease susceptibility.
References
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