Abstract
Introduction and hypothesisPrevious 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.MethodsCase-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.ResultsThe 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).ConclusionsWe found nonsignificant trends toward associations of SNPs on the SERPINA5, UMOD and MMP1 gene and SUI.
Highlights
Introduction and hypothesisPrevious studies have indicated a hereditary component of stress urinary incontinence; evidence on candidate genes or single-nucleotide polymorphisms (SNPs) is scarce
SERPINA5 protein was identified as being induced [17]. Summarizing those previous findings, we found plasma serine protease inhibitor in a significantly higher abundance in urine samples of Stress urinary incontinence (SUI) patients compared with controls, and we found it induced in serum samples of the same patients
The other protein which caught our attention was uromodulin, which is usually found in high abundance in urine, but which we found in significantly lower abundance in SUI patients compared with healthy controls
Summary
Previous studies have indicated a hereditary component of stress urinary incontinence; evidence on candidate genes or single-nucleotide polymorphisms (SNPs) is scarce. Results The rs885786 SNP of the SERPINA5 gene was identified in 15 cases and 10 controls (p = 0.09). Stress urinary incontinence (SUI) has an estimated prevalence of almost 50% in the female population aged 16–50 (range 12.5–79%). Previous studies have indicated a possible hereditary component; evidence on potential candidate genes or single-nucleotide polymorphisms (SNPs) is still scarce [5,6,7,8]. Strong genetic effects (estimated proportion of variance of susceptibility to lower urinary tract symptoms of 0.51; 95% CI 0.07–0.67) could be observed for urinary incontinence in a Swedish national population-based study of twins
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