Abstract
The aim of this study was to search for associations of genotypes and alleles of polymorphic loci of the PTEN/PI3K/AKT pathway genes rs2494750 of AKT1, rs2735343, rs2299941, rs10490920 of PTEN, rs17878362 of TP53, and rs2699887 of PIK3CA with the risk of prostate cancer development. As a result of comparison allele and genotype frequencies between the general sample of prostate cancer patients and the control group of healthy individuals, it was found that the CG genotype of the polymorphic locus rs2735343 of PTEN is associated with an increased risk of developing the disease (OR = 1.38, 95%CI = 1.02–1.87, p = 0.04), whereas the GG genotype showed a decrease in the frequency of occurrence in the group of patients compared with the control (OR = 0.74, 95%CI = 0.55–0.99, p = 0.05). When stratifying the group of patients with prostate cancer, depending on histopathological characteristics, it was revealed that the rs2735343*C allele is associated with an increased risk of bilateral lesions of both prostate lobes and invasion of seminal vesicles. With allowance for further validating studies, the results of this work can be used to create a panel of molecular markers for disease prognosis and assessment of tumor characteristics.
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ACKNOWLEDGMENTS
This work was carried out on the equipment of the Center for Collective Use Biomics and the unique scientific installation KODINK, using DNA samples from the Center for Collective Use Collection of Human Biological Materials of the Institute of Biochemistry and Genetics of the Ural Federal Research Center of the Russian Academy of Sciences.
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This study was performed with the partial financial support of the mega-grant of the Government of the Russian Federation no. 075-15-2021-595.
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I.R. Gilyazova and E.A. Ivanova contributed equally to this work.
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Statement of compliance with standards of research involving humans as subjects. All procedures performed in a study involving people comply with the ethical standards of the institutional and/or national committee for research ethics and the 1964 Helsinki Declaration and its subsequent changes or comparable ethical standards. Informed voluntary consent was obtained from each of the participants.
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Gilyazova, I.R., Ivanova, E.A., Bermisheva, M.A. et al. The Role of Polymorphic Variants of Gene Components of the PTEN/PI3K/AKT Signaling Pathway in the Development of Prostate Cancer. Russ J Genet 58, 844–849 (2022). https://doi.org/10.1134/S1022795422070055
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DOI: https://doi.org/10.1134/S1022795422070055