Women with pelvic organ prolapse and fibulin-5 rs12589592 polymorphism

Rev Assoc Med Bras (1992). 2024 Dec 2;70(11):e20240687. doi: 10.1590/1806-9282.20240687. eCollection 2024.

Abstract

Objective: This study aims to access the frequency of single-nucleotide polymorphism rs12589592 (G>A) of the fibulin-5 gene in a Brazilian population with pelvic organ prolapse.

Methods: This was a case-control study, with menopausal women divided into two groups and classified using the pelvic organ prolapse quantification system: pelvic organ prolapse group: pelvic organ prolapse quantification system stages III and IV and Control group: pelvic organ prolapse quantification system stages I and 0. We collected epidemiologic and baseline health information and performed genotyping of rs12589592 from the fibulin-5 gene using a restriction fragment length polymorphism (polymerase chain reaction-restriction fragment length polymorphism) strategy, based on the distinction of sequences from alleles G and A by the restriction enzyme DdeI. For the pelvic organ prolapse group and control, 111 and 180 women were recruited, respectively.

Results: The rs12589592 (G>A) polymorphism analysis showed 141 GG homozygotes (pelvic organ prolapse group: 53 [47.7%] and Control: 88 [49.2%] p=0.850); and 149 AA+GA: (pelvic organ prolapse group: 58 [52.3%]; Control: 91 [50.8%]; p=0.904). The distribution of genotypes did not follow the Hardy-Weinberg equilibrium conditions.

Conclusion: There was no difference between groups regarding genotypes (rs12589592 G>A) frequency; however, the population characteristics prevent the analysis of the association between the genotype and the occurrence of prolapse.

MeSH terms

  • Aged
  • Brazil
  • Case-Control Studies
  • Extracellular Matrix Proteins* / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype*
  • Humans
  • Middle Aged
  • Pelvic Organ Prolapse* / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length / genetics
  • Polymorphism, Single Nucleotide* / genetics
  • Risk Factors

Substances

  • FBLN5 protein, human
  • Extracellular Matrix Proteins