medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.07.3-11medgen-3507Research ArticleНАУЧНЫЙ ОБЗОРREVIEWПатогенетика миомы матки: обзор полногеномных исследований ассоциацийPathogenetics of uterine fibroids: A review of genome-wide association studiesГлянцеваЛ. А.GliantsevaL. A.

305041, г. Курск, ул. К. Маркса, д.3

3 K. Marx str., Kursk, 305041

liubov.ponomareva07@gmail.comСамойленкоЮ. А.SamoilenkoYu. A.

305041, г. Курск, ул. К. Маркса, д.3

3 K. Marx str., Kursk, 305041

УлиноваА. О.UlinovaA. O.

305041, г. Курск, ул. К. Маркса, д.3

3 K. Marx str., Kursk, 305041

СолдатоваМ. О.SoldatovaM. O.

305041, г. Курск, ул. К. Маркса, д.3

3 K. Marx str., Kursk, 305041

БушуеваО. Ю.BushuevaO. Yu.

305041, г. Курск, ул. К. Маркса, д.3

3 K. Marx str., Kursk, 305041

ФГБОУ ВО Курский государственный медицинский университет Минздрава РоссииРоссияKursk State Medical UniversityRussian Federation202610082026257311Copyright © Глянцева Л.А., Самойленко Ю.А., Улинова А.О., Солдатова М.О., Бушуева О.Ю., 20262026Глянцева Л.А., Самойленко Ю.А., Улинова А.О., Солдатова М.О., Бушуева О.Ю.Gliantseva L.A., Samoilenko Y.A., Ulinova A.O., Soldatova M.O., Bushueva O.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3507

Миома матки (ММ) – наиболее распространенная доброкачественная опухоль репродуктивной системы, этиология и патогенез которой остаются не полностью раскрытыми. За последние 15 лет полногеномные исследования ассоциаций (GWAS) стали основным инструментом выявления локусов генетического риска. Цель обзора – оценить вклад GWAS в изучение ММ, проанализировать эволюцию подходов и определить связь выявленных локусов с молекулярными механизмами заболевания. По данным GWAS Catalog, PubMed и eLibrary отобраны 13 GWAS-исследований и ряд репликативных работ. GWAS идентифицировали сотни локусов, вовлеченных в поддержание стабильности генома (TP53, TERT), развитие мочеполовой системы (WNT4, MED12), гормональную регуляцию (GREB1) и другие процессы. Показаны генетическое перекрытие ММ с эндометриозом и репродуктивными признаками, а также этноспецифичные эффекты, однако количество репликативных исследований остается ограниченным. Намечается переход от изучения изолированных локусов к интеграции сигналов в патофизиологические пути, что требует дальнейших подтверждающих исследований в независимых популяциях.

Uterine fibroids (UF) are the most common benign tumors of the reproductive system, yet their etiology and pathogenesis remain incompletely understood. Over the past 15 years, genome-wide association studies (GWAS) have become the primary tool for identifying genetic risk loci. The aim of this review is to evaluate the contribution of GWAS to the study of UF, to analyze the evolution of approaches, and to determine the relationship between the identified loci and the molecular mechanisms of the disease. Based on data from the GWAS Catalog, PubMed, and eLibrary, 13 GWAS studies and a number of replication studies were selected. GWAS have identified hundreds of loci involved in genome stability maintenance (TP53, TERT), urogenital system development (WNT4, MED12), hormonal regulation (GREB1), and other processes. Genetic overlap between UF and endometriosis as well as reproductive traits, along with ethnicity-specific effects, has been demonstrated. However, the number of replication studies remains limited. A transition from the analysis of individual loci to the integration of signals into pathophysiological pathways is emerging, underscoring the necessity of further confirmatory studies in independent populations.

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