sibmedСибирский научный медицинский журналСибирский научный медицинский журнал2410-25122410-2520ИЦиГ СО РАН10.18699/SSMJ20220407sibmed-841Research ArticleОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕRESEARCH ARTICLEРезультаты таргетного секвенирования генов PRL, PRLR, PRLHR у молодых женщин с гиперпролактинемией неопухолевого генезаResults of targeted sequencing of the PRL, PRLR, PRLHR genes in young women with non-tumor hyperprolactinemiahttps://orcid.org/0000-0001-6108-1025ШахтшнейдерЕ. В.ShakhtshneiderE. V.

Елена Владимировна Шахтшнейдер, к.м.н.

630090, г. Новосибирск, просп. Академика Лаврентьева, 10630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Elena V. Shakhtshneider, candidate of medical sciences

630090, Novosibirsk, Akademik Lavrentiev ave., 10630089, Novosibirsk, Boris Bogatkov str., 175/1

2117409@mail.ruhttps://orcid.org/0000-0002-0403-545XИванощукД. Е.IvanoshchukD. E.

Динара Евгеньевна Иванощук

630090, г. Новосибирск, просп. Академика Лаврентьева, 10630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Dinara E. Ivanoshchuk

630090, Novosibirsk, Akademik Lavrentiev ave., 10630089, Novosibirsk, Boris Bogatkov str., 175/1

dinara2084@mail.ruhttps://orcid.org/0000-0002-2908-002XВоеводаС. М.VoevodaS. M.

Светлана Михайловна Воевода

630090, г. Новосибирск, просп. Академика Лаврентьева, 10630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Svetlana M. Voevoda

630090, Novosibirsk, Akademik Lavrentiev ave., 10630089, Novosibirsk, Boris Bogatkov str., 175/1

sm.voevoda@mail.ruhttps://orcid.org/0000-0003-4095-0169РымарО. Д.RymarO. D.

Оксана Дмитриевна Рымар, д.м.н.

630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Oksana D. Rymar, doctor of medical sciences

630089, Novosibirsk, Boris Bogatkov str., 175/1

orymar23@gmail.comФИЦ Институт цитологии и генетики СО РАН; НИИ терапии и профилактической медицины – филиал ФИЦ Институт цитологии и генетики СО РАНРоссияFederal Research Center Institute of Cytology and Genetics SB RAS; Research Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics SB RASRussian FederationНИИ терапии и профилактической медицины – филиал ФИЦ Институт цитологии и генетики СО РАНРоссияResearch Institute of Internal and Preventive Medicine – Branch of the Institute of Cytology and Genetics SB RASRussian Federation2022270820224247986Copyright © Шахтшнейдер Е.В., Иванощук Д.Е., Воевода С.М., Рымар О.Д., 20222022Шахтшнейдер Е.В., Иванощук Д.Е., Воевода С.М., Рымар О.Д.Shakhtshneider E.V., Ivanoshchuk D.E., Voevoda S.M., Rymar O.D.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://sibmed.elpub.ru/jour/article/view/841

Цель работы – изучить спектр вариантов в генах PRL, PRLR, PRLHR у женщин репродуктивного возраста с гиперпролактинемией неопухолевого генеза. Материал и методы. У женщин с гиперпролактинемией неопухолевого генеза (n = 15) выполнено таргетное высокопроизводительное секвенирование генов PRL, PRLR, PRLHR. Таргетная панель генов включала кодирующие области и прилегающие сайты сплайсинга. Результаты. При анализе генов PRL, PRLR, PRLHR определен ряд редких и распространенных вариантов. В гене PRL выявлен распространенный вариант rs1205955 (MAF А = 0,279). Для гена PRLR выявлены редкий вариант rs185353023 в 3’UTR (MAF А/С = 0,003) и 12 распространенных вариантов. Для гена PRLHR определены 10 распространенных вариантов. Максимальное количество вариантов было локализовано в области 3’UTR и интронах. Заключение. Впервые в России выполнено таргетное высокопроизводительное секвенирование генов PRL, PRLR, PRLHR, по результатам которого не выявлено очевидныx патологических вариантов в изучаемых генах у женщин с увеличением содержания пролактина неопухолевого генеза. Обнаруженный полиморфизм в данных генах дает возможность дальнейшего изучения его ассоциации с нарушениями функции пролактинового звена гормональной регуляции.

Aim. To study the spectrum of variants in the PRL, PRLR, PRLHR genes in women of reproductive age with non-tumor hyperprolactinemia. Material and methods. In women with non-tumor hyperprolactinemia (n = 15), targeted high-throughput sequencing of the PRL, PRLR, and PRLHR genes was performed. The target panel of genes included coding regions and adjacent splicing sites. Results. When analyzing the PRL, PRLR, PRLHR genes, a number of rare and common variants were identified. The common variant rs1205955 was found in the PRL gene (MAF А = 0.279). For the PRLR gene, a rare variant rs185353023 was identified in the 3’UTR (MAF А/С = 0.003) and 12 common variants. For the PRLHR gene, 10 common variants have been identified. The maximum number of variants was localized in the 3’UTR region and introns. Conclusions. For the first time in Russia, targeted high-throughput sequencing of the PRL, PRLR, PRLHR genes was performed, the results of which did not reveal obvious pathological variants in the studied genes in women with high prolactin content of non-tumor origin. The discovered polymorphism in these genes makes it possible to further study its association with impaired function of the prolactin link of hormonal regulation.

генетика человекапролактинсеквенирование нового поколенияген пролактина (PRL)ген рецептора пролактина (PRLR)ген рецептора пролактин-рилизинг-гормона (PRLHR)human geneticsprolactinnext generation sequencingPRL genePRL receptor geneprolactin-releasing hormone receptor geneРабота выполнена в рамках госзадания рег. № 122031700094-5 «Эпидемиологический мониторинг состояния здоровья населения и изучение молекулярно-генетических и молекулярно-биологических механизмов развития распространенных терапевтических заболеваний в Сибири для совершенствования подходов к их диагностике, профилактике и лечению».The work was carried out within the framework of task No. 122031700094-5 “Epidemiological monitoring of the state of public health and the study of molecular genetics and molecular biological mechanisms for the development of common therapeutic diseases in Siberia to improve approaches to their diagnosis, prevention and treatment”.ReferencesBernard V., Young J., Binart N. 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The authors declare that there are no conflicts of interest present.