Molecular genetic determinants of adenomyosis
- Authors: Altukhova O.B.1, Radzinsky V.E.2, Sirotina S.S.1, Efremova O.A.1, Batlutskaya I.V.1, Orlova V.S.1, Churnosov M.I.1
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Affiliations:
- Belgorod State National Research University
- Peoples' Friendship University of Russia
- Issue: No 4 (2024)
- Pages: 69-74
- Section: Original Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/632094
- DOI: https://doi.org/10.18565/aig.2023.272
- ID: 632094
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Abstract
Relevance: Adenomyosis is a common disease of the female reproductive system that affects 15–45% of women. One important aspect of the pathogenesis of adenomyosis is the disruption of apoptosis and immune processes, which are caused by an imbalance of growth factors (VEGF, EGF, TGFβ1, IGF1, and FGFR2). Polymorphisms in growth factor genes may influence their expression and therefore play a role in the pathophysiology of adenomyosis.
Objective: To evaluate the involvement of polymorphic loci in growth factor genes in the development of adenomyosis.
Materials and methods: This study included 102 patients with adenomyosis and 778 control women. Five polymorphic growth factor gene loci were selected for the study: rs4444903 EGF c.-382A>G and rs6214 IGF1 c.*2716G>A, rs2981582 FGFR2 c.109+906T>C, rs833061 VEGF c.-958C>T, rs1800469 TGFb1 c .-1347 T>S. The analysis was performed by real-time PCR. The APSampler program was used to assess inter-locus interactions (https://sourceforge.net/projects/apsampler/).
Results: The study results showed that the genotype GG IGF1 rs6214 (OR=2.64, p=0.01) should be considered a risk factor for the development of adenomyosis, as well as the combination of polymorphic variants G rs6214 IGF1, C rs1800469 TGFb1, A rs4444903 EGF, and T rs833061 VEGF (OR=1.88, pperm=0.0021), and the alleles G rs6214 IGF1, C rs1800469 TGFb1, T rs833061 VEGF, and C rs2981582 FGFR2 (OR=1.71, pperm=0.003).
Conclusion: The gene combinations rs4444903 EGF, rs6214 IGF1, rs2981582 FGFR2, rs833061 VEGF, and rs1800469 TGFb1 are associated with the development of adenomyosis. These results indicate the importance of interlocus interactions between growth factor genes in the development of adenomyosis. In the future, the obtained data could be used in practical medicine.
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About the authors
Oksana B. Altukhova
Belgorod State National Research University
Email: kristalinka@yandex.ru
Dr. Med. Sci., Professor of the Department of Obstetrics and Gynecology, Medical Institute
Russian Federation, BelgorodViktor E. Radzinsky
Peoples' Friendship University of Russia
Email: radzinskiy-ve@rudn.ru
Dr. Med. Sci., Professor, Merited Scholar of the Russian Federation, Academician of the International Academy of Sciences of the Higher School, Head of the Department of Obstetrics and Gynecology, Faculty of Medicine
Russian Federation, MoscowSvetlana S. Sirotina
Belgorod State National Research University
Author for correspondence.
Email: sirotina@bsu.edu.ru
ORCID iD: 0000-0002-4163-7863
PhD (Bio), Associate Professor at the Department of Biomedical Disciplines
Russian Federation, BelgorodOlga A. Efremova
Belgorod State National Research University
Email: efremova@bsu.edu.ru
ORCID iD: 0000-0003-4967-2556
Dr. Med. Sci., Associate Professor, Head of the Department of Faculty Therapy of the Medical Institute
Russian Federation, BelgorodIrina V. Batlutskaya
Belgorod State National Research University
Email: bat@bsu.edu.ru
ORCID iD: 0000-0003-0068-6586
Dr. Bio. Sci., Associate Professor, Head of the Department of Biotechnology and Microbiology
Russian Federation, MoscowValentina S. Orlova
Belgorod State National Research University
Email: orlova@bsu.edu.ru
ORCID iD: 0000-0003-3882-9191
Dr. Med. Sci., Professor at the Department of Obstetrics and Gynecology of the Medical Institute
Russian Federation, BelgorodMikhail I. Churnosov
Belgorod State National Research University
Email: churnosov@bsu.edu.ru
ORCID iD: 0000-0003-1254-6134
Dr. Med. Sci., Professor, Head of the Department of Biomedical Disciplines of the Medical Institute
Russian Federation, BelgorodReferences
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