medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2019-4-33(408)-44-47medalphabet-1392Research ArticleСтатьиГенетика и эпигенетика пролапса органов малого тазаGenetics and epigenetics of pelvic organs prolapseТитовД. С.TitovD. S.

к. м. н., зав. отделением гинекологии

г. Москва

Moscow

ДиккеГ. Б.DikkeG. B.

д. м. н., доцент, проф. кафедры акушерства и гинекологии с курсом репродуктивной медицины

г. Санкт-Петербург 

Saint Petersburg

ФГБУ «Объединенная больница с поликлиникой» Управления делами Президента Российской ФедерацииРоссияUnited Hospital and Polyclinic of the Administrative Department of the President of RussiaRussian FederationЧОУ ДПО «Академия медицинского образования имени Ф. И. Иноземцева»РоссияAcademy of Medical Education n. a. F. I. InozemtsevRussian Federation201923012020433Современная гинекология4447Copyright © Титов Д.С., Дикке Г.Б., 20202020Титов Д.С., Дикке Г.Б.Titov D.S., Dikke G.B.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-alphabet.com/jour/article/view/1392

Идентификация генетических вариантов, лежащих в основе наследственности пролапса тазовых органов (ПТО), помогает выявить полезные маркеры для оценки клинического риска, прогноза и ответа на лечение. Выявлена ассоциация полиморфизмов в гене ADRB 3 с гиперактивным мочевым пузырем и в гене COL1A1 с ПТО. Мутация АА генотипа COL3A1 rs1800255 повышает вероятность ПТО в 4,8 раза. Имеются доказательства вовлеченности в развитие ПТО генов группы деградации экстрацеллюлярного матрикса (ЭЦМ), в которую входят гены, кодирующие матриксные металлопротеиназы. В ходе изучения заболеваний соединительной ткани была выявлена их синтропность, обусловленная генетически в виде общего рискового гаплотипа гена FBLN 5. Значение эпигенетических механизмов для развития ПТО показано в виде супрессии гена лизилоксидазы (ЛО). До настоящего времени не ясна роль факторов, индуцирующих изменение эпигенетической регуляции и приводящих к появлению клинических симптомов пролапса.

Identification of the genetic variants underlying the heredity of pelvic organ prolapse helps to identify useful markers for assessing clinical risk, prognosis and response to treatment. An association of polymorphisms in the ADRB 3 gene with an overactive bladder and in the COL1A1 gene with PTO was detected. AA mutation of the COL3A1 rs1800255 genotype increases the probability of VET by 4.8 times. There is evidence of involvement in the development of PTO genes of the extracellular matrix degradation group (ECM), which includes genes encoding matrix metalloproteinases. During the study of diseases of the connective tissue, their syntropy was revealed, which is genetically determined as a common risk haplotype of the FBLN 5 gene. The significance of epigenetic mechanisms for the development of VET is shown in the form of lysyl oxidase (LO) gene suppression. So far, the role of factors that induce changes in epigenetic regulation and lead to the appearance of clinical symptoms of prolapse is not clear.

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