National Clinical Research Center for Obstetrical and Gynecological Diseases, Department of Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Key Laboratory of Cancer Invasion and Metastasis, Ministry of Education, Wuhan 430030, China.
Biomolecules. 2024 Sep 1;14(9):1097. doi: 10.3390/biom14091097.
Pelvic organ prolapse (POP) is a benign disease characterized by the descent of pelvic organs due to weakened pelvic floor muscles and fascial tissues. Primarily affecting elderly women, POP can lead to various urinary and gastrointestinal tract symptoms, significantly impacting their quality of life. The pathogenesis of POP predominantly involves nerve-muscle damage and disorders in the extracellular matrix metabolism within the pelvic floor. Recent studies have indicated that genetic factors may play a crucial role in this condition. Focusing on linkage analyses, single-nucleotide polymorphisms, genome-wide association studies, and whole exome sequencing studies, this review consolidates current research on the genetic predisposition to POP. Advances in epigenetics are also summarized and highlighted, aiming to provide theoretical recommendations for risk assessments, diagnoses, and the personalized treatment for patients with POP.
盆腔器官脱垂（POP）是一种良性疾病，其特征为盆腔器官由于盆底肌肉和筋膜组织薄弱而下降。POP 主要影响老年女性，可导致各种泌尿系统和胃肠道症状，显著影响其生活质量。POP 的发病机制主要涉及神经肌肉损伤和盆底细胞外基质代谢紊乱。最近的研究表明，遗传因素可能在这种情况下起关键作用。本综述重点关注连锁分析、单核苷酸多态性、全基因组关联研究和全外显子组测序研究，总结了 POP 遗传易感性的当前研究进展。还总结并强调了表观遗传学的进展，旨在为 POP 患者的风险评估、诊断和个体化治疗提供理论建议。
