Progress in the genetics and epigenetics of pelvic floor disorder

Pelvic floor disorder (PFD) is a common gynecological disorder, and with the ageing of the population, PFD has a serious impact on the physical and mental health of patients and their quality of life. The most prominent of these are pelvic organ prolapse (POP) and urinary incontinence (UI), about which the etiology is still unclear, and it is urgent to explore their pathogenesis. Advances in genetics and epigenetics have provided new insights into the pathophysiology of PFD. Candidate genes and genome-wide association studies have identified susceptibility genes for POP and UI. These susceptibility genes typically promote POP by affecting pelvic floor connective tissue. The role of susceptibility genes in UI is multifactorial and includes promoting inflammation, damaging pelvic floor connective tissue, and modulating neurogenic effects. The association of epigenetic changes with POP and UI has also been investigated. DNA methylation studies have identified several important pathways associated with POP. miRNAs play an important role in the development of POP and UI, and this may be an important therapeutic direction for the future. The studies conducted so far have shown that genetic and epigenetic techniques are of great importance in exploring the etiology of PFD and that more in-depth studies are needed in the future.