Genetic association in female stress urinary incontinence: a case-control study
IUGA Academy. Koch M. Jun 30, 2018; 212868; 443 Topic: Stress Incontinence
Marianne Koch
Marianne Koch

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Genetic association in female stress urinary incontinence: a case-control study

Reischer, T1; Balendran-Braun, S2; Liebmann-Reindl, S2; Streubel, B2; Umek, W2; Koelbl, H2;Koch, M2

1: Medical University of Vienna; 2: Medical University of Vienna

Introduction: Stress urinary incontinence (SUI) affects 20-40% of the female population, yet its exact etiology remains unknown (1). Previous studies have indicated a possible hereditary component; however evidence on potential candidate genes or single nucleotide polymorphisms (SNPs) seems scarce (2).

Objective: To investigate a possible genetic component of SUI based on preceding studies identifying a significant difference in the urinary and serum proteome in comparison to controls.

Methods: Case- control study including 19 patients with isolated SUI and age-matched controls (total n=38). Inclusion criteria and demographic data were identical to the previous studies on urinary and serum proteome (3). Blood samples were immediately centrifuged after collection to separate serum from blood cells, and were subsequently frozen at -20°C until further processing. Literature research was undergone in order to identify candidate genes for SUI (COL1A1, MMP1) and their frequency of known SNPs. Additionally, known SNPs for genes encoding proteins, which had previously shown a significantly different abundance in urine and serum samples of the same patient population (SERPINA5, UMOD) were searched in the database of short genetic variations (dbSNP) and pubmed. Genomic DNA was isolated from blood using QIAamp DNA Blood Midi Kit (Qiagen) according to the protocol. We performed Sanger sequencing of the selected exons and introns.

Results: The rs885786 (homozygous and heterozygous) SNP of the SERPINA5 gene was identified in 15 controls and 10 cases (p=0,09) (Figure 1). The rs6113 SNP of the SERPINA5 gene was present significantly more often in controls compared to cases (p=0,03) (Figure 2). Other known SNPs of the SERPINA5 gene (rs10130906, rs2069963, rs2069962, rs2069961, rs2069959) did not show any trends in difference between the two groups, as well as the rs11647727 and rs34857077 SNPs of the UMOD gene. The rs4293393, rs13333226 and rs13335818 (homozygous and heterozygous) of the UMOD gene were identified in 5 controls and 2 cases (p=0,20). The rs1800012 SNP in the COL1A1 gene was present in 5 controls versus 4 cases (heterozygous and homozygous) (p=0,24). The homozygous rs1799750 SNP of the MMP1 gene was present in 5 controls versus 8 cases (p=0,18).

Figure 1. rs885786 SNP of the SERPINA5 gene Figure 2. rs6113 SNP of the SERPINA5 gene

Conclusions: We found a significant association of the rs6113 SNP of the SERPINA5 gene with SUI as well as a non-significant trend towards an association of the rs885786 SNP of the SERPINA5 gene and SUI. We furthermore found a non-significant trend towards an association of the rs4293393, rs13333226 and rs13335818 SNP of the UMOD gene and SUI. These findings seem to be in line with urine and serum analyses of the same patient population, indicating a positive association of SERPINA5 protein and a negative association with UMOD protein in SUI patients. The previously published homozygous rs1799750 SNP of the MMP1 gene also showed a non-significant trend towards an association with SUI in our population. However, our results only show trends, partly due to a small sample size, and need to be validated in a larger population.


(1) PMID: 25437731

(2) PMID: 25111588

(3) PMID: 29359342


Work supported by industry: no.

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