Obstetrics and GynecologyObstetrics and GynecologyАкушерство и гинекология0300-90922412-5679Bionika Media247625ArticlesСтатьиReview ArticleDEVELOPMENT OF POLYCYSTIC OVARY SYNDROME: GENETIC ASPECTSГЕНЕТИЧЕСКИЕ АСПЕКТЫ ФОРМИРОВАНИЯ СИНДРОМА ПОАИКИСТОЗНЫХ ЯИЧНИКОВNaidukovaA. AНайдуковаА. А

post-graduate, department of gynecological endocrinology

аспирант отделения гинекологической эндокринологии

KaprinaE. KКапринаЕ. К

post-graduate, department of gynecological endocrinology

аспирант отделения гинекологической эндокринологии

DonnikovA. EДонниковА. Е

Candidate of Medical Sciences, Senior Researcher, Laboratory of molecular genetic research methods

К.М.Н., с.н.с. лаборатории молекулярно-генетических методов исследования

a_donnikov@oparina4.ruChernukhaG. EЧернухаГ. Е

a doctor of medical sciences, professor, head of department of Gynecological Endocrinology

Д.М.Н., профессор, руководитель отделения гинекологической эндокринологии

g_chemukha@oparina4.ruResearch Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of RussiaФГБУ Научный центр акушерства, гинекологии и перинатологии им. академика В.И. Кулакова Минздрава России150320163NO3 (2016)№3 (2016)162318022023Copyright ©; 2016, Bionika MediaCopyright ©; 2016, ООО «Бионика Медиа»2016Bionika MediaООО «Бионика Медиа»https://journals.eco-vector.com/0300-9092/article/view/247625

Objective. To study the data available in the modem literature on the genetic markers for the development of polycystic ovary syndrome (POS). Materials and methods. Publications on the candidate genes of POS development, which were associated with impaired androgen biosynthesis, ovulatory dysfunction, and metabolic disturbances, were reviewed. Results. More than 100 candidate genes are known to be involved in the development of POS. Full-genomic studies in a Chinese female population revealed 11 new genetic markers for POS, which corresponded to the THADA, DENND1A, INSR, C9orf3, YAP1, LHCGR, FSHR, HMG2, T0X3, SUOX, and RAB5B genes, Genetic studies conducted in the USA and Western Europe confirmed an interethnic similarity by 8 genes. Conclusion. Identification of new polymorphic loci associated with POS in women of different populations substantiates that it is expedient to conduct further genetic clinical, associative, and functional investigations to study the contribution of these genes to the development of a spectrum of reproductive and metabolic disorders.

Цель исследования. Изучитъ имеющиеся в современной литературе данные о генетических маркерах развития синдрома поликистозн ых яичников (СПКЯ). Материал и методы. Проведен обзор публикаций, посвященных генам-кандидатамразвития СПКЯ, ассоциированным с нарушением биосинтеза андрогенов, овуляторной дисфункцией, метаболическими нарушениями. Результаты. Известно более ста генов-кандидатов развития СПКЯ. В ходе полногеномных исследований на китайской популяции женщин выявлено 11 новых генетических маркеров СПКЯ, соответствующих генам THADA, DENND1A, INSR, C9orf3, YAP1, LHCGR, FSHR, HMG2, ТОХЗ, SU0X, RAB5B. Генетические исследования, проведенные в США и странах Западной Европы, подтвердили межэтническое сходство по 8 генам. Заключение. Выявление новых полиморфных локусов, ассоциированных с СПКЯ у женщин различных популяций, обосновывает целесообразность проведения дальнейших генетических клинико-ассоциативных и функциональных исследований для изучения вклада данных генов в формирование широкого спектра репродуктивных и метаболических нарушений.

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