Abstract
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.
Highlights
Summary 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
AA mutation of the COL3A1 rs1800255 genotype increases the probability of VET by 4.8 times
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
Summary
Резюме 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. Имеются доказательства вовлеченности в развитие ПТО генов группы деградации экстрацеллюлярного матрикса (ЭЦМ), в которую входят гены, кодирующие матриксные металлопротеиназы.
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