Abstract

To evaluate the C-1562T matrix metalloproteinase 9 (MMP9) gene polymorphisms as risk factors related to the occurrence of pelvic organ prolapse (POP) and to identify the clinical variables associated with the occurrence of the disease. Epidemiological studies of risk factors for POP do not explain why nulliparous women with no known risk factors also develop POP. Therefore, genetic factors may be involved. Cohort study with 86 women with symptomatic POP (cases), and 158 women without a prior or current diagnosis of this disorder (controls). The groups were analyzed for the presence of MMP9 gene polymorphisms. Genotyping was performed using polymerase chain reaction (PCR) with DNA obtained from a peripheral venous puncture of both groups. There were no differences between the cases and controls even when we grouped the mutant homozygous and heterozygous genotypes. The analysis of patients with a complete absence of POP versus patients with total POP also showed no statistically significant differences. Age and home birth were found to be independent risk factors for POP. There were no statistically significant differences in the C-1562T MMP9 polymorphisms between the cases and controls in Brazilian women.

Highlights

  • In its latest publication, the International Urogynecological Association (IUGA)/International Continence Society (ICS) considered pelvic organ prolapse (POP), primarily as an anatomical change of pelvic organs, such as the uterus and/or the different vaginal compartments and their neighboring organs, such as the bladder, the rectum, or the bowel.[1]

  • Objetivo Avaliar polimorfismos do gene C-1562T do gene matriz de metaloproteinase 9 (MMP9) como fatores de risco relacionados à ocorrência de prolapso de órgão pélvico (POP) e identificar variáveis clínicas associadas à ocorrência da doença

  • Pelvic organ prolapse is a complex entity with a multifactorial etiology and various predisposing factors that include pregnancy, vaginal births, advanced age, skeletal structure variation, neuromuscular involvement, congenital factors, genetic factors, ethnic factors, body mass index (BMI), and connective tissue diseases.[2]

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Summary

Introduction

The International Urogynecological Association (IUGA)/International Continence Society (ICS) considered pelvic organ prolapse (POP), primarily as an anatomical change of pelvic organs, such as the uterus and/or the different vaginal compartments and their neighboring organs, such as the bladder, the rectum, or the bowel.[1]. The risk of a woman developing POP when she has a sister with the disease is 2.4-fold.[7] The future of genital prolapse treatment will be influenced by genetics, biological pelvic changes, changes in tissue homeostasis, and topical hormones, rather than general pelvic anatomical surgical correction.[8] Epidemiological evidence suggests that some women have a genetic predisposition for the development of urogenital prolapse and stress urinary incontinence (SUI). A group of families with an autosomal dominant pattern of POP transmission with high penetrance was identified.[9] The changes in the pelvic floor due to all of the etiological factors vary individually and seem to determine the occurrence of POP only in women with a predisposition for its development.[10] Biochemical or structural defects of the components supporting the pelvic floor could contribute to the development of the disease.[11]

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