medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2025-051medsovet-9020Research ArticleРЕПРОДУКТИВНОЕ ЗДОРОВЬЕ И ВРТREPRODUCTIVE HEALTH AND ARTМолекулярно-генетические факторы формирования миомы маткиMolecular genetic factors of uterine fibroids formationhttps://orcid.org/0009-0009-0312-0829ПономаренкоМ. С.PonomarenkoM. S.

Пономаренко Марина Сергеевна, аспирант кафедры медико-биологических дисциплин Медицинского института

308015, Белгород, ул. Победы, д. 85

Marina S. Ponomarenko, Postgraduate Student, Department of Biomedical Disciplines of the Medical Institute

85, Pobedy St., Belgorod, 308015

ponomarenkomc@yandex.ruhttps://orcid.org/0000-0002-5429-6666РешетниковЕ. А.ReshetnikovE. A.

Решетников Евгений Александрович, д.б.н., доцент, профессор кафедры медико-биологических дисциплин Медицинского института

308015, Белгород, ул. Победы, д. 85

Evgeny A. Reshetnikov, Dr. Sci. (Biol.), Associate Professor, Professor of the Department of Biomedical Disciplines of the Medical Institute

85, Pobedy St., Belgorod, 308015

reshetnikov@bsu.edu.ruhttps://orcid.org/0000-0002-5652-0166ПономаренкоИ. В.PonomarenkoI. V.

Пономаренко Ирина Васильевна, д.м.н., доцент, профессор кафедры медико-биологических дисциплин Медицинского института

308015, Белгород, ул. Победы, д. 85

 

Irina V. Ponomarenko, Dr. Sci. (Med.), Associate Professor, Professor of the Department of Biomedical Disciplines of the Medical Institute

85, Pobedy St., Belgorod, 308015

ponomarenko_i@bsu.edu.ruhttps://orcid.org/0000-0003-1254-6134ЧурносовМ. И.ChurnosovM. I.

Чурносов Михаил Иванович, д.м.н., профессор, заведующий кафедрой медико-биологических дисциплин Медицинского института

308015, Белгород, ул. Победы, д. 85

 

Mikhail I. Churnosov, Dr. Sci. (Med.), Professor, Head of the Department of Biomedical Disciplines of the Medical Institute

85, Pobedy St., Belgorod, 308015

churnosov@bsu.edu.ruБелгородский государственный национальный исследовательский университетРоссияBelgorod State National Research UniversityRussian Federation202526042025042125Copyright © Пономаренко М.С., Решетников Е.А., Пономаренко И.В., Чурносов М.И., 20252025Пономаренко М.С., Решетников Е.А., Пономаренко И.В., Чурносов М.И.Ponomarenko M.S., Reshetnikov E.A., Ponomarenko I.V., Churnosov M.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/9020

Миома матки представляет собой доброкачественную опухоль миометрия, поражающую более 70% женщин во всем мире. Из-за высокой распространенности, экономических затрат системы здравоохранения и существенного влияния на качество жизни женщин миома матки представляет серьезную проблему как для каждой отдельно взятой женщины с данным диагнозом, так и для системы здравоохранения в целом. Генетические факторы играют значительную роль в формировании миомы матки. В статье рассмотрены современные данные о генетических детерминантах развития миомы матки, полученные в результате анализа полногеномных исследований (GWAS) и последующих репликативных исследований. На данный момент времени в литературе представлены материалы 8 GWAS и 5 репликативных исследований миомы матки. По GWAS-данным установлено более 50 различных генов-кандидатов, вовлеченных в развитие заболевания. Однако только 19 генов (CDC42/WNT4, GREB1, ACTRT3/TERC/MYNN/LRRC34, SCFD2/LNX1, SULT1B1, TERT, FGFR4, SYNE1/ESR1, KANK1/DMRT1, SLK/OBFC1, WT1/CD44/PDHX, BET1L/RIC8A/SIRT3/PSMD13, ATM/C11orf65, SLC38A2, LINC0/FOXO1/FLJ42392, SHBG/TP53, MCM8/TRMT6, TNRC6B, MED12/TEX11/SLC7A3) показали связь с миомой матки в двух и более GWAS-исследованиях. В 5 проведенных репликативных исследованиях миомы матки подтверждена вовлеченность в формирование заболевания только для 2 (BET1L и TNRC6B) из более чем 50 известных к настоящему времени GWAS-значимых генов-кандидатов миомы матки. Это диктует необходимость продолжения дальнейших генетико-эпидемиологических исследований миомы матки в разных этнотерриториальных группах.

Uterine fibroids are benign tumors of the myometrium that affect more than 70% of women worldwide. Due to the high prevalence, the economic costs of the health system and the significant impact on women’s quality of life, uterine fibroids pose a serious problem both for each individual woman with this diagnosis and for the health care system as a whole. Genetic factors play a significant role in the formation of uterine fibroids. The article examines current data on the genetic determinants of uterine fibroids, obtained as a result of the analysis of full-genomic studies (GWAS) and subsequent replicative studies. At this point in time, materials from 8 GWAS and 5 replicative studies of uterine fibroids are presented in the literature. According to GWAS data, more than 50 different candidate genes involved in the development of the disease have been identified. However, only 19 genes (CDC42/WNT4, GREB1, ACTRT3/TERC/MYNN/LRRC34, SCFD2/LNX1, SULT1B1, TERT, FGFR4, SYNE1/ESR1, KANK1/ DMRT1, SLK/OBFC1, WT1/CD44/PDHX, BET1L/RIC8A/SIRT3/PSMD13, ATM/C11orf65, SLC38A2, LINC0/FOXO1/FLJ42392, SHBG/TP53, MCM8/TRMT6, TNRC6B, MED12/TEX11/SLC7A3) have shown an association with uterine fibroids in two or more GWAS studies. In 5 conducted replicative studies of uterine fibroids, the involvement in the formation of the disease was confirmed for only 2 (BET1L and TNRC6B) of more than 50 significant candidate genes for uterine fibroids known to date by GWAS. This dictates the need to continue further genetic and epidemiological studies of uterine fibroids in different ethno-territorial groups.

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The authors declare that there are no conflicts of interest present.