Cited by 9Pelvic floor disorders treatmentsGenetic Associations and EpidemiologyUterine Myomas and Treatments

Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress

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Jiang, Wenxuan, Cheung, Rachel Yau Kar, Chung, Cheuk Yan, Chan, Symphorosa Shing Chee, Choy, Kwong Wai·2024·Genes

Abstract

Background: Pelvic organ prolapse (POP) has become a common health problem among the aging population and affects an increasing number of elderly women worldwide. Studies within family and twin pairs provided strong evidence for the contribution of genetic factors to POP. Given the incomplete penetrance, polygenic traits, and small effect sizes of each variant in complex diseases, it is not always easy to evaluate the genetic susceptibility and molecular mechanisms involved in POP. Objectives: This review intends to comprehensively summarize the current studies on genetic variants associated with POP. Methods: We performed a comprehensive review to summarize the genetic findings from genome-linkage studies, genome-wide association studies, candidate association studies, and gene expression analyses. Results: We summarized genetic variants associated with connective tissue homeostasis, hormone metabolism, and oxidative stress, which were potentially related to the pathophysiology of POP. We also reviewed the limited polygenic risk score (PRS) studies generated for each individual’s genetic risk stratification and its integration into clinical risk factors for disease prediction. Conclusions: This pooled analysis provides moderate epidemiological credibility for associations of these genetic variants with POP to bridge the gap between genetic research and clinical medicine towards understanding the genetic etiology of POP. It also highlights the potential of PRS as a risk prediction model.

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  • Obesity, which is related to morbidity, appears to be mitigated by both prehabilitation and the implementation of evidence informed early recovery after surgery programmes.

    “Obesity, which is related to morbidity, appears to be mitigated by both prehabilitation and the implementation of evidence informed early recovery after surgery programmes [8, 9, 10, 11, 12, 13].”

    From How Can We Improve the Assessment and Indifferent Outcomes From Pelvic Organ Prolapse Management From Conservative and Surgical Therapies? ICI‐RS 2025 (2026) · cites this paper as [10]

    The Introduction (page unavailable) discusses pelvic organ prolapse and its risk factors, not obesity-related surgical morbidity. Searches for obesity, prehabilitation, and enhanced recovery after surgery found no passage addressing whether those programmes mitigate obesity-related morbidity. (LLM, conf=0.75)

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Authors
Jiang, W., Cheung, R. Y. K., Chung, C. Y., Chan, S. S. C., & Choy, K. W.
Affiliations
Chinese University of Hong Kong (HK)
Corresponding author
Choy, Kwong Wai
Venue
Genes
Publisher
MDPI AG
Published
2024-12-24
Volume
16
Issue
1
Pages
5
ISSN
2073-4425 (ISSN-L)
OpenAlex
W4405737861
Cited by
9
References
174
Citations by year
2026: 7 · 2025: 2
FWCI
0.67
Type
journal article
Language
en
Open access
Locations
  • Genes (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
Liauw’s Family Reproductive Genomics Fund
Topics
  • Health Sciences › Medicine › Rheumatology › Pelvic floor disorders treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Obstetrics and Gynecology › Uterine Myomas and Treatments
Keywords
pelvic organ prolapse, genetic susceptibility, hormone metabolism, oxidative stress, genetic variants, polygenic risk score, genome-wide association study, twin and family studies, risk prediction, older women
MeSH terms
Connective Tissue, Female, Homeostasis, Hormones, Humans, Oxidative Stress, Genetic Predisposition to Disease, Multifactorial Inheritance, Genome-Wide Association Study, Pelvic Organ Prolapse

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