Genetic Polymorphisms in Collagen-related Genes Are Associated with Pelvic Organ Prolapse

Overview

Journal Menopause

Specialty Gynecology & Obstetrics

Date 2019 Oct 31

PMID 31663982

Citations 10

Authors

Lei Li

Zhijing Sun

Juan Chen

Ye Zhang

Honghui Shi

Lan Zhu

Affiliations

Soon will be listed here.

Abstract

Objective: Pelvic organ prolapse (POP) is a common health issue that has a profound negative influence on women's quality of life. Genetic susceptibility to POP has been increasingly investigated. In this study, we assessed the single-nucleotide polymorphisms (SNPs) of six collagen-related genes (COL14A1, COL5A1, COL4A2, COL3A1, COL1A1, and COL18A1) and the genetic association with POP in Chinese women.

Methods: We performed a candidate gene association study of case women (n = 48) with stage III and IV prolapse and control women (n = 48) without prolapse. A target region sequencing approach was used to identify the SNPs in collagen-related genes. The association between SNPs and POP was examined by Fisher exact tests for unadjusted model and logistic regression analysis adjusted for delivery and pregnancy.

Results: There was a significant association between COL14A1 SNPs (rs4870723, rs2305600, and rs2305598; P = 0.013, 0.019, and 0.028, respectively), a COL5A1 SNP (rs3827852; P = 0.016), and COL4A2 SNPs (rs76425569, rs388222, and rs2281968; P = 0.049 for the three, and rs445348, P = 0.040) and POP, respectively. Although there was no significant association between the COL3A1 SNP and POP, there was a trend toward significance for COL14A1 SNP (rs2305603), COL4A2 SNP (rs74941798), two COL1A1 SNPs (rs2586488 and rs2249492) and three COL18A1 SNPs (rs1050351, rs56335679, and rs55690336), and POP.

Conclusion: We are the first to evaluate the relationship between COL14A1, COL5A1, and COL4A2 polymorphisms and POP, besides COL3A1, COL1A1, and COL18A1, which have been reported previously. We found several candidate SNPs that were significantly associated with prolapse in Chinese women. Our results provide new evidence for further investigation of the involvement of these potential genes in the etiology of POP.

Citing Articles

Family history and acquired risk factors for pelvic organ prolapse: a case-control study in Japan.

Ashikari A, Kadekawa K, Tokushige A, Iwata H, Nagamine S, Machida N Sci Rep. 2025; 15(1):5717.

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

Jiang W, Cheung R, Chung C, Chan S, Choy K Genes (Basel). 2025; 16(1).

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Genetics of Female Pelvic Organ Prolapse: Up to Date.

Li Y, Li Z, Li Y, Gao X, Wang T, Huang Y Biomolecules. 2024; 14(9).

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A Comprehensive Review of Genetic Variations in Collagen-Encoding Genes and Their Implications in Intervertebral Disc Degeneration.

Goel S, Deshpande S, Dhaniwala N, Singh R, Suneja A, Jadawala V Cureus. 2024; 16(1):e52708.

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Early growth response 2, a novel target of pelvic organ prolapse, is highly expressed in anterior vaginal wall tissues with pelvic organ prolapse.

Jin X, Xu H, Hu Q, Yin Y, Qin M, Xia Z Histochem Cell Biol. 2023; 161(2):195-205.

PMID: 37874337 DOI: 10.1007/s00418-023-02240-2.

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