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引用次数: 0
摘要
盆腔器官脱垂(POP)是一种良性疾病,其特点是盆底肌肉和筋膜组织衰弱导致盆腔器官下垂。POP 主要影响老年妇女,可导致各种泌尿道和胃肠道症状,严重影响她们的生活质量。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,遗传因素可能在这一疾病中起着至关重要的作用。本综述以关联分析、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为重点,整合了当前有关 POP 遗传易感性的研究。本综述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、诊断和个性化治疗提供理论建议。
Genetics of Female Pelvic Organ Prolapse: Up to Date
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.
BiomoleculesBiochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
3.60%
发文量
1640
审稿时长
18.28 days
期刊介绍:
Biomolecules (ISSN 2218-273X) is an international, peer-reviewed open access journal focusing on biogenic substances and their biological functions, structures, interactions with other molecules, and their microenvironment as well as biological systems. Biomolecules publishes reviews, regular research papers and short communications. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced.