Search for susceptibility genes to cervical cancer with an assessment of the prevalence of oncogenic types of human papillomavirus in women from the Republic of Bashkortostan

  • Authors: Lenkova K.V.1, Lyalina G.Z.2, Minyazeva R.К.3, Akhmetova V.L.4, Yalaev B.I.5, Gilyazova I.R.6,2,7, Khusainova R.I.8,9, Minniakhmetov I.R.10
  • Affiliations:
    1. FGBNU “Institute of Biochemistry and Genetics” UFIC RAS
    2. Bashkir State Medical University
    3. Bashkir State Medical University of the Ministry of Health of the Russian Federation.
    4. Ufa University of Science and Technology
    5. SSC RF Federal State Budgetary Institution NMIC of Endocrinology of the Ministry of Health of the Russian Federation
    6. Institute of Biochemistry and Genetics, Ufa Scientific Center, RAS
    7. «Saint Petersburg State University» (Department of Biology)
    8. Institute of Biochemistry and Genetics – a separate structural subdivision of the Federal State Budgetary Scientific Institution of the Ufa Federal Research Center of the Russian Academy of Sciences
    10. SSC RF Federal State Budgetary Institution NMIC of Endocrinology of the Ministry of Health of the Russian Federation, Russia
  • Section: Original Study Articles
  • Submitted: 09.12.2024
  • Accepted: 24.03.2025
  • Published: 27.03.2025
  • URL: https://rjonco.com/1028-9984/article/view/642735
  • DOI: https://doi.org/10.17816/onco642735
  • ID: 642735


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Abstract

Relevance: Cervical cancer represents a serious medical and social issue, significantly reducing the quality and life expectancy of women affected by the disease. The key factor in the pathogenesis of сervical cancer is the persistent infection with high-risk oncogenic types of the human papillomavirus.

Objective: To investigate the spectrum and prevalence of a human papillomavirus infection among women in the Republic of Bashkortostan and to identify molecular-genetic predispositions to сervical cancer.

Materials and Methods: The study included 219 HPV-positive samples, randomly selected during screening to analyze the spectrum and frequency of of a human papillomavirus infection types. A follow-up screening was conducted later with 70 HPV-positive women to determine their HPV status, assess cervical health by an obstetrician-gynecologist, and perform cytological analysis. If necessary, colposcopy and biopsy for histological examination were also carried out. In the third stage, a comparative analysis of polymorphisms in the CLPTM1L (rs27069), PAX8 (rs10175462), and CDC42 (rs2268177) genes was performed between groups of patients with histologically confirmed сervical cancer and conditionally healthy women.

Results: No direct correlation was found between the number of of a human papillomavirus infection types in the sample and viral load, nor between viral load and of a human papillomavirus infection clearance. The study replicated statistically significant associations with the risk allele G of the rs27069 locus in the CLPTM1L gene (χ²=4,098, p=0,043) and with the risk allele T (χ²=16,99, p=3,751e-005) and genotype TT (χ²=17,35, p=0,0002) of the rs2268177 locus in the CDC42 gene. In contrast, no association was identified for the rs10175462 polymorphism in the PAX8 gene.

Conclusion: In this study, we conducted the first replication analysis of GWAS results for cervical cancer in Russia. Associations were identified for the rs27069 polymorphism in the CLPTM1L gene and the rs2268177 polymorphism in the CDC42 gene, while no associations were found for rs10175462 in the PAX8 gene. These findings highlight the need for further research to confirm these associations and expand understanding of the molecular mechanisms related to сervical cancer risk and a human papillomavirus infection persistence.

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About the authors

Ksenia V. Lenkova

FGBNU “Institute of Biochemistry and Genetics” UFIC RAS

Author for correspondence.
Email: ms.kv.kl@mail.ru
ORCID iD: 0000-0001-5903-0085
SPIN-code: 8509-7901

postgraduate student in the scientific specialty 06.06.01 – Biological sciences (profile-Genetics)

Russian Federation, 450054, Russia, Ufa, Republic of Bashkortostan, 71, Oktyabrya Ave. October, 71

Gulnara Z. Lyalina

Bashkir State Medical University

Email: davlet_g@mail.ru
ORCID iD: 0000-0001-7540-733X
SPIN-code: 7602-3416

postgraduate student in the scientific specialty– Clinical medicine (profile – Obstetrics and Gynecology) of the Department of Obstetrics and Gynecology with a course in IDPO of the Federal State Budgetary Educational Institution of Higher Medical Education of the Ministry of Health of the Russian Federation

Russian Federation, 47 Zaki Validi str., Ufa, 450008, Republic of Bashkortostan

Raushaniya К. Minyazeva

Bashkir State Medical University of the Ministry of Health of the Russian Federation.

Email: dr.gubaydullina@mail.ru
ORCID iD: 0000-0001-5542-9531
SPIN-code: 9660-0317

postgraduate student in the scientific specialty – Clinical Medicine (profile – Oncology) of the Department of Obstetrics and Gynecology No. 2 of the Federal State Budgetary Educational Institution of Higher Medical Education of the Ministry of Health of the Russian Federation, oncologist radiotherapist

Russian Federation, 450000, St. Lenina, 3, Ufa, Rep. Bashkortostan, Russia .

Vita L. Akhmetova

Ufa University of Science and Technology

Email: vita-akh@mail.ru
ORCID iD: 0000-0002-1874-0774
SPIN-code: 9716-8937

PhD of Biological Sciences, Senior Researcher, Ufa University of Science and Technology Senior Researcher, Institute of Biochemistry and Genetics, UFIC RAS

Russian Federation, Karl Marx str., 12, Ufa, Republic of Bashkortostan, 450008, Russia.

Bulat I. Yalaev

SSC RF Federal State Budgetary Institution NMIC of Endocrinology of the Ministry of Health of the Russian Federation

Email: yalaev.bulat@endocrincentr.ru
ORCID iD: 0000-0003-4337-1736
SPIN-code: 2546-1425

PhD of Biological Sciences

Senior Researcher

Russian Federation, 11 Dmitriya Ulyanov str., Moscow, 117292, Russia.

Irina R. Gilyazova

Institute of Biochemistry and Genetics, Ufa Scientific Center, RAS; Bashkir State Medical University; «Saint Petersburg State University» (Department of Biology)

Email: gilyasova_irina@mail.ru
ORCID iD: 0000-0001-9499-5632
SPIN-code: 5799-4821

Senior Researcher at the Institute of Biochemistry and Genetics of the Ufa Scientific Center of the Russian Academy of Sciences; Head of the Laboratory of Molecular Genetics of the Institute of Urology and Clinical Oncology of the Bashkir State Medical University of the Ministry of Health of the Russian Federation, Associate Professor of the Department of Medical Genetics and Fundamental Medicine of Bashkir State Medical University, senior Researcher, St. Petersburg State University (Faculty of Biology), candidate of Biological Sciences, associate Professor

Russian Federation, Oktyabrya Ave., 71, Ufa, 450054; Lenin Str., 3, Ufa, 450008; Universitetskaya Emb., 7–9, St. Petersburg, 199034

Rita I. Khusainova

Institute of Biochemistry and Genetics – a separate structural subdivision of the Federal State Budgetary Scientific Institution of the Ufa Federal Research Center of the Russian Academy of Sciences;

Email: ritakh@mail.ru
ORCID iD: 0000-0002-8643-850X
SPIN-code: 4091-9326

leading researcher of the Institute of Biochemistry and Genetics – separate structural subdivision of the Federal State Budgetary Scientific Institution Ufa Federal Research Center of the Russian Academy of Sciences. Pr. D. in Biological Sciences, Associate Professor

Russian Federation, 11 Dm. Ulyanova str., Moscow, 117292

Ildar R. Minniakhmetov

SSC RF Federal State Budgetary Institution NMIC of Endocrinology of the Ministry of Health of the Russian Federation, Russia

Email: minniakhmetov@gmail.com
ORCID iD: 0000-0002-7045-8215
SPIN-code: 8643-7056

PhD of Biological Sciences, Deputy Director for Laboratory and Research Activities of the Scientific Research Center of the Russian Federation, Federal State Budgetary Institution NMIC of Endocrinology of the Ministry of Health of the Russian Federation, Russia

Researcher at the Institute of Biochemistry and Genetics – separate structural subdivision of the Federal State Budgetary Scientific Institution Ufa Federal Research Center of the Russian Academy of Sciences, candidate of Biological Sciences, Associate Professor

Russian Federation, 11 Dm. Ulyanova str., Moscow, 117292

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