Genetic polymorphisms of HNF1B, CASC17, CASC8 and CCAT2 genes associated with prostate cancer risk in urologic patients
- Autores: Polukonova N.V.1, Fomkin R.N.1, Pylaev T.E.1, Bucharskaya A.B.1, Mezirov G.G.1, Voronina E.S.1, Popkov V.M.1, Fomkina O.A.1, Krupinov G.E.2
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Afiliações:
- V.I. Razumovsky State Medical University of Saratov
- Sechenov University
- Edição: Nº 5 (2025)
- Páginas: 44-52
- Seção: Original Articles
- ##submission.datePublished##: 18.11.2025
- URL: https://journals.eco-vector.com/1728-2985/article/view/696350
- DOI: https://doi.org/10.18565/urology.2025.5.44-52
- ID: 696350
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Resumo
Objective. The aim of the study was to analyze genomic combinations of four SNPs—rs4430796 (HNF1B), rs1859962 (CASC17), rs1447295 (CASC8), and rs6983267 (CCAT2) – associated with prostate cancer (PCa) in urological patients, including those with benign prostatic hyperplasia (BPH), PCa, and urolithiasis (UL). Materials and methods. A genetic study of blood samples from 236 patients in the Russian population was conducted, including 97 with benign prostatic hyperplasia (BPH), 89 with prostate cancer (PC) and 50 with urolithiasis (UL) – the control group. The extraction of DNA from venous blood was undertaken, and genotyping was subsequently performed by PCR followed by restriction degradation. Subsequently, the allele and genotype frequencies were compared between groups using the χ² test. Odds ratios (OR) and 95% confidence intervals were estimated. The results obtained from this study are as follows. An association was identified between mutant alleles T (HNF1B) and C (CASC17) in RP and BPH, which was absent in the control group. The TT genotype at rs4430796 (HNF1B) has been demonstrated to be associated with an increased risk of prostate cancer (OR=2,38; 95% CI: 1,26–4,47; p=0,004). The CC genotype at rs1859962 (CASC17) has also been demonstrated to be associated with prostate cancer (OR=3,80; 95% CI: 1,30–11,4; p=0,015). The TT (HNF1B) + CC (CASC17) combination was absent in patients with ICD, but was common in patients with RP and DGP. It is also considered a possible marker of the tumour process. The area under the curve (AUC) was 0,71, which corresponds to moderate diagnostic value. The genomic combinations GG TT (CASC8+CCAT2) and GG G/T exhibited differences between the DGP and RP groups. The study identified unique combinations of four single-nucleotide polymorphisms (SNPs) that are characteristic of patients with DGP. Conclusion. A combined analysis of polymorphisms rs4430796 and rs1859962 has the potential to serve as a basis for the genetic stratification of PR risk in the Russian population. The identified genomic combinations have potential as marker panels for screening and differentiation of PC and BPH, as well as for the development of personalised approaches in oncology.
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Sobre autores
Natalia Polukonova
V.I. Razumovsky State Medical University of Saratov
Email: polukonovanv@yandex.ru
ORCID ID: 0000-0001-9228-6808
Scopus Author ID: 56116373500
D.Sc. (Biology), Professor, Head of the Laboratory of Cell Technologies, Research Institute of Fundamental and Clinical Urology and Nephrology
Rússia, SaratovRoman Fomkin
V.I. Razumovsky State Medical University of Saratov
Autor responsável pela correspondência
Email: rnfomkin@mail.ru
ORCID ID: 0000-0001-6895-6445
Scopus Author ID: 37000482700
PhD, Cand. Sci. (Medicine), Associate Professor, Department of Urology; Senior Researcher, Research Institute of Fundamental and Clinical Urology and Nephrology
Rússia, SaratovTimofey Pylaev
V.I. Razumovsky State Medical University of Saratov
Email: pylaev.te@staff.sgmu.ru
ORCID ID: 0000-0002-2701-3333
Scopus Author ID: 37100394000
Cand. Sci. (Biology), Director, Research, Production and Educational Center for Molecular Genetic and Cell Technologies
Rússia, SaratovAlla Bucharskaya
V.I. Razumovsky State Medical University of Saratov
Email: allaalla_72@mail.ru
ORCID ID: 0000-0003-0503-6486
Scopus Author ID: 11738772400
D.Sc. (Biology), Head, Shared Core Facility for Experimental Oncology, Research Institute of Fundamental and Clinical Urology and Nephrology
Rússia, SaratovGeorgy Mezirov
V.I. Razumovsky State Medical University of Saratov
Email: mezirov.zhora@yandex.ru
ORCID ID: 0009-0008-9372-621X
postgraduate student, Department of Urology; Junior Researcher, Research Institute of Fundamental and Clinical Urology and Nephrology
Rússia, SaratovElena Voronina
V.I. Razumovsky State Medical University of Saratov
Email: lenchicves@mail.ru
ORCID ID: 0000-0002-4954-4784
Scopus Author ID: 57202154410
PhD, Cand. Sci. (Medicine), Associate Professor, Department of Pathological Anatomy; Researcher, Research Institute of Fundamental and Clinical Urology and Nephrology
Rússia, SaratovVladimir Popkov
V.I. Razumovsky State Medical University of Saratov
Email: vmpopkov2018@mail.ru
ORCID ID: 0000-0003-2876-9607
Scopus Author ID: 15761044900
MD, D.Sc. (Medicine), Professor, Head of the Department of Urology; Director, Research Institute of Fundamental and Clinical Urology and Nephrology
Rússia, SaratovOlga Fomkina
V.I. Razumovsky State Medical University of Saratov
Email: oafomkina@mail.ru
ORCID ID: 0000-0002-1516-0504
Scopus Author ID: 57193817466
MD, D.Sc. (Medicine), Associate Professor, Associate Professor of the Department of Human Anatomy
Rússia, SaratovGerman Krupinov
Sechenov University
Email: gekrupinov@mail.ru
ORCID ID: 0000-0002-2571-8671
Scopus Author ID: 8533730600
MD, D.Sc. (Medicine), Professor, Institute of Urology and Human Reproductive Health
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