Genetic polymorphisms of HNF1B, CASC17, CASC8 and CCAT2 genes associated with prostate cancer risk in urologic patients
- 作者: 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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隶属关系:
- V.I. Razumovsky State Medical University of Saratov
- Sechenov University
- 期: 编号 5 (2025)
- 页面: 44-52
- 栏目: 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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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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作者简介
Natalia Polukonova
V.I. Razumovsky State Medical University of Saratov
Email: polukonovanv@yandex.ru
ORCID iD: 0000-0001-9228-6808
Scopus 作者 ID: 56116373500
D.Sc. (Biology), Professor, Head of the Laboratory of Cell Technologies, Research Institute of Fundamental and Clinical Urology and Nephrology
俄罗斯联邦, SaratovRoman Fomkin
V.I. Razumovsky State Medical University of Saratov
编辑信件的主要联系方式.
Email: rnfomkin@mail.ru
ORCID iD: 0000-0001-6895-6445
Scopus 作者 ID: 37000482700
PhD, Cand. Sci. (Medicine), Associate Professor, Department of Urology; Senior Researcher, Research Institute of Fundamental and Clinical Urology and Nephrology
俄罗斯联邦, SaratovTimofey Pylaev
V.I. Razumovsky State Medical University of Saratov
Email: pylaev.te@staff.sgmu.ru
ORCID iD: 0000-0002-2701-3333
Scopus 作者 ID: 37100394000
Cand. Sci. (Biology), Director, Research, Production and Educational Center for Molecular Genetic and Cell Technologies
俄罗斯联邦, SaratovAlla Bucharskaya
V.I. Razumovsky State Medical University of Saratov
Email: allaalla_72@mail.ru
ORCID iD: 0000-0003-0503-6486
Scopus 作者 ID: 11738772400
D.Sc. (Biology), Head, Shared Core Facility for Experimental Oncology, Research Institute of Fundamental and Clinical Urology and Nephrology
俄罗斯联邦, 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
俄罗斯联邦, SaratovElena Voronina
V.I. Razumovsky State Medical University of Saratov
Email: lenchicves@mail.ru
ORCID iD: 0000-0002-4954-4784
Scopus 作者 ID: 57202154410
PhD, Cand. Sci. (Medicine), Associate Professor, Department of Pathological Anatomy; Researcher, Research Institute of Fundamental and Clinical Urology and Nephrology
俄罗斯联邦, SaratovVladimir Popkov
V.I. Razumovsky State Medical University of Saratov
Email: vmpopkov2018@mail.ru
ORCID iD: 0000-0003-2876-9607
Scopus 作者 ID: 15761044900
MD, D.Sc. (Medicine), Professor, Head of the Department of Urology; Director, Research Institute of Fundamental and Clinical Urology and Nephrology
俄罗斯联邦, SaratovOlga Fomkina
V.I. Razumovsky State Medical University of Saratov
Email: oafomkina@mail.ru
ORCID iD: 0000-0002-1516-0504
Scopus 作者 ID: 57193817466
MD, D.Sc. (Medicine), Associate Professor, Associate Professor of the Department of Human Anatomy
俄罗斯联邦, SaratovGerman Krupinov
Sechenov University
Email: gekrupinov@mail.ru
ORCID iD: 0000-0002-2571-8671
Scopus 作者 ID: 8533730600
MD, D.Sc. (Medicine), Professor, Institute of Urology and Human Reproductive Health
俄罗斯联邦, Moscow参考
- Kaprin A.D., Starinskiy V.V., Shakhzadova A.O. et al. Malignant neoplasms in Russia in 2023 (incidence and mortality). Moscow: MNIIO P.A. Herzen (branch of Federal State Budgetary Institution «National Medical Research Center of Radiology» of the Ministry of Health of the Russian Federation); 2024. 276 p. Russian (Каприн А.Д., Старинский В.В., Шахзадова А.О. Злокачественные новообразования в России в 2023 г. (заболеваемость и смертность). Москва: МНИОИ им. П.А. Герцена (филиал ФГБУ «НМИЦ радиологии» Минздрава России), 2024. 276 с.). ISBN 978-5-85502-298-8.
- Somov A.N., Suslin S.A. Prostate cancer: epidemiology, modern trends in diagnostics and risk stratification. Russian Journal of Preventive Medicine. 2020;23(3):149–155. doi: 10.17116/profmed202023031149. Russian (Сомов А.Н., Суслин С.А. Рак предстательной железы: эпидемиология, современные тенденции диагностики и стратификация групп риска. Российский журнал профилактической медицины. 2020;23(3):149–155).
- Kaprin A.D., Alekseev B.Ya., Matveev V.B. et al. Prostate cancer. Clinical guidelines. Sovremennaya onkologiya. 2021;23(2):211–247. doi: 10.26442/18151434.2021.2.200959. Russian (Каприн А.Д., Алексеев Б.Я., Матвеев В.Б. и др. Рак предстательной железы. Клинические рекомендации. Современная онкология. 2021;23(2):211–247).
- Mucci L.A., Hjelmborg J.B., Harris J.R. et al. Familial risk and heritability of cancer among twins in Nordic countries. JAMA. 2016;315(1):68–76. doi: 10.1001/jama.2015.17703.
- Allemailem K.S., Almatroudi A., Alrumaihi F., Almansour N.M., Aldakheel F.M., Rather R.A., Afroze D., Rah B. Single nucleotide polymorphisms (SNPs) in prostate cancer: implications in diagnostics and therapeutics. American Journal of Translational Research. 2021;13:3868–3889.
- Vieira G.M., Gellen L.P.A., da Veiga Borges Leal D.F., Pastana L.F., Vinagre L.W.M.S., Aquino V.T., Fernandes M.R., de Assumpção P.P., Burbano R.M.R., Dos Santos S.E.B., Dos Santos N.P.C. Correlation between genomic variants and worldwide epidemiology of prostate cancer. Genes (Basel). 2022;13(6):1039. doi: 10.3390/genes13061039.
- Polukonova N.V., Fomkin R.N., Demin A.G., Pylaev T.E., Mezirov G.G., Mudrak D.A., Bucharskaya A.B., Voronina E.S., Maslyakova G.N., Popkov V.M. Molecular markers and their combinations for prediction of prostate cancer risk. In: Proceedings of XI International Scientific and Practical Conference «Molecular Diagnostics». Moscow; 2023. p. 203. Russian (Полуконова Н.В., Фомкин Р.Н., Демин А.Г., Пылаев Т.Е., Мезиров Г.Г., Мудрак Д.А., Бучарская А.Б., Воронина Е.С., Маслякова Г.Н., Попков В.М. Молекулярные маркеры и их комбинации для прогнозирования риска развития рака предстательной железы. Молекулярная диагностика. Сборник трудов XI Международной научно-практической конференции. Москва; 2023. С. 203).
- Mylnikov A.M., Demin A.G., Polukonova N.V., Bucharskaya A.B., Fomkin R.N., Pylaev T.E., Ponukalin A.N. Method for predicting risk of prostate cancer development. Patent for invention RU 2827104 C1, 2024 Sep 23. Application No. 2023134769, 2023 Dec 22. Russian (Мыльников А.М., Демин А.Г., Полуконова Н.В., Бучарская А.Б., Фомкин Р.Н., Пылаев Т.Е., Понукалин А.Н. Способ прогнозирования риска развития рака предстательной железы. Патент на изобретение № 2827104 С1, 23.09.2024. Заявка № 2023134769 от 22.12.2023).
- Ren F., Wang M., Wu Z. et al. Association of rs1859962 (17q24) with prostate cancer risk: meta-analysis. Medicine (Baltimore). 2020;99(3):e18398. doi: 10.1097/MD.0000000000018398.
- Zhao Y., Shen C., Guo M. et al. Cumulative evidence for relationships between 8q24 variants and prostate cancer. Frontiers in Physiology. 2018;9:915. doi: 10.3389/fphys.2018.00915.
- Schumacher F.R., Olama A.A., Berndt S.I. et al. Association analysis of more than 140,000 men identifies 63 new prostate cancer susceptibility loci. Nature Genetics. 2018;50(7):928–936. doi: 10.1038/s41588-018-0142-8.
- Zhao Y., Wang X., Ni Y., Ma Y., Peng X. Meta-analysis of the HNF1B rs4430796 polymorphism and prostate cancer risk. Genetics and Molecular Research. 2015;14(3):7426–7435.
- Ren F., Zhang Y., Zhang W., Zeng W., Xu Q., Wang Y., Liu Z. Association of rs1859962 (17q24) with prostate cancer risk: meta-analysis. Medicine (Baltimore). 2020;99(3):e18398. doi: 10.1097/MD.0000000000018398.
- Zhao Y., Zhang L., Shen C. et al. Can long-term regular practice of physical exercises including Tai Chi improve finger tapping of patients presenting with mild cognitive impairment? Frontiers in Physiology. 2018;9:1396. doi: 10.3389/fphys.2018.01396.
- Seibert T.M., Fan C.C., Wang Y. et al. Polygenic hazard score for aggressive prostate cancer. BMJ. 2018;360:j5757. doi: 10.1136/bmj.j5757.
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