Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study

Int Urogynecol J. 2020 Jan;31(1):117-122. doi: 10.1007/s00192-019-03878-0. Epub 2019 Feb 4.


Introduction and hypothesis: Previous studies have indicated a hereditary component of stress urinary incontinence; however, evidence on candidate genes or single-nucleotide polymorphisms (SNPs) is scarce. We hypothesize a genetic association of female stress urinary incontinence based on significant differences of the urinary and serum proteomic pattern in the identical study population.

Methods: Case-control study of 19 patients and 19 controls. We searched for known SNPs of SUI candidate genes (COL1A1, MMP1, SERPINA5, UMOD) in the database of short genetic variations and PubMed. Genomic DNA was isolated using QIAamp DNA Blood Midi Kit (Qiagen). We performed Sanger sequencing of selected exons and introns.

Results: The rs885786 SNP of the SERPINA5 gene was identified in 15 cases and 10 controls (p = 0.09). The rs6113 SNP of the SERPINA5 gene was present in 4 controls compared to 0 cases (p = 0.105). The rs4293393, rs13333226 and rs13335818 SNPs of the UMOD gene were identified in five cases and two controls (p = 0.20), the rs1800012 SNP of the COL1A1 gene in five cases versus four controls (p = 0.24) and the homozygous rs1799750 SNP of the MMP1 gene in eight cases versus five controls (p = 0.18). The combination of the rs885786 SNP of the SERPINA5 gene and rs179970 SNP of the MMP1 gene was detected in ten cases versus five controls (p = 0.072).

Conclusions: We found nonsignificant trends toward associations of SNPs on the SERPINA5, UMOD and MMP1 gene and SUI.

Keywords: COL1A1; Genetic association; MMP1; SERPINA5; Serum proteome; Stress urinary incontinence; UMOD; Urinary proteome.

MeSH terms

  • Adult
  • Case-Control Studies
  • Female
  • Humans
  • Matrix Metalloproteinase 1 / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Protein C Inhibitor / genetics*
  • Proteome*
  • Urinary Incontinence, Stress / blood
  • Urinary Incontinence, Stress / genetics*
  • Urinary Incontinence, Stress / urine


  • Protein C Inhibitor
  • Proteome
  • SERPINA5 protein, human
  • MMP1 protein, human
  • Matrix Metalloproteinase 1