Genetic factors in the development of endometrial hyperplasia

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Endometrial hyperplasia is a gynecological disease characterized by uneven proliferation of the endometrium with an increased gland-to-stroma ratio compared to the normal endometrium. Genetic factors play a significant role in the development of endometrial hyperplasia. The article presents current data on the genetic factors that contribute to this disease. The genetic studies have demonstrated associations with the development of endometrial hyperplasia of certain groups of candidate genes: growth factor genes (TGFß-1, FGFR2, IGF1, EGF), cytokines (TNFα, Ltα, TNFR1, ТNFR2, RANTES, I-TAC, MIP1β, MCP1, SDF1, IL-8, RАNТES), cytochromes (CYP2D6, CYP19A1), lipid metabolism (APOE, FTO), menarche (UGT2B4, LIN28B, ZNF483, LHCGR, FSHB, F13A1, BSX, TMEM38B, 3q13.32, COMT, KISS1, FTO), estrogen receptors (ESR2), oncogenes (AKT1, KRAS, EGFR, PIK3CA, BRAF, NRAS, CTNNB1, PTEN, ARID1A). In addition, a number of studies have shown a link between endometrial hyperplasia and the expression of estrogen receptors, cyclooxygenase-2, and a number of oncogenic microRNAs (miR-18a, miR-210, miR-221, and miR-222). It should be noted that the influence of genetic factors on the development of endometrial hyperplasia has been studied in fragments; the number of associative studies is extremely small, and genome-wide studies of endometrial hyperplasia have not been conducted.

Conclusion: Today, there is a critical need to continue further genetic and epidemiological studies of endometrial hyperplasia.

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Sobre autores

Vladimir Churnosov

Belgorod State National Research University

Email: vchurnosov@yandex.kz
ORCID ID: 0009-0007-8519-4594

PhD student at the Department of Biomedical Disciplines

Rússia, 308015, Belgorod, Pobedy str., 85

Irina Ponomarenko

Belgorod State National Research University

Autor responsável pela correspondência
Email: ponomarenko_i@bsuedu.ru
ORCID ID: 0000-0002-5652-0166

Dr. Med. Sci., Professor at the Department of Medical and Biological Disciplines

Rússia, 308015, Belgorod, Pobedy str., 85

Mikhail Churnosov

Belgorod State National Research University

Email: churnosov@bsuedu.ru
ORCID ID: 0000-0003-1254-6134

Dr. Med. Sci., Head of the Department of Medical and Biological Disciplines

Rússia, 308015, Belgorod, Pobedy str., 85

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