ASSOCIATION OF SINGLE-NUCLEOTIDE POL YMORPHISMS OF THE 12th CHROMOSOME WITH COLORECTAL CANCER IN REPRESENTATIVES OF THE POPULATION OF CENTRAL KAZAKHSTAN

Colorectal cancer is one of the most frequently diagnosed malignant tumors in the world and the Republic of Kazakhstan. Currently, the studied genetic variations and environmental risk factors are attributed to the etiology of colorectal cancer. This study was aimed to search for polymorphisms associated with the development of colorectal adenocarcinoma in representatives of the population of Central Kazakhstan. A significant number of polymorphisms associated with colorectal cancer were localized on chromosome 12. Materials and methods: the study involved 441 participants. The test material was venous blood, from which DNA was isolated. Next, genotyping was performed using a QuantStudio 12K Flex PCR. Statistical processing included the following parameters, Pearson x2 test, determination of the odds ratio and 95% confidence intervals. The genotype -phenotype relationship was determined using the general linear model with multiple inheritance options. Results and discussion: all polymorphisms met the Hardy - Weinberg equilibrium. Four significant polymorphisms according to the x2 test had MAF associated with colorectal cancer risk. For them, an analysis of inheritance models was carried out on the basis of a log-additive model. The data obtained allowed us to speak of an increased risk of colorectal cancer for rs3217810 and a decrease in the risk for: rs7315438, rs2238126, rs11064437. Conclusion: we identified polymorphisms that are associated with the risk of colorectal cancer in the Kazakhstan population according to the log-additive model of inheritance and the distribution of minor allele frequencies. The research is experimental work, and the results are of scientific novelty.

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