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

ABSTRACT: 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.

SUBMITTER: Reischer T

PROVIDER: S-EPMC6949200 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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

Reischer Theresa T Balendran-Braun Sukirthini S Liebmann-Reindl Sandra S Streubel Berthold B Umek Wolfgang W Koelbl Heinz H Koch Marianne M

International urogynecology journal 20190204 1

<h4>Introduction and hypothesis</h4>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.<h4>Methods</h4>Case-control study of 19 patients and 19 controls. We searched for known SNPs of SUI c ...[more]

PMID: 30715578

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Project description:ObjectiveThe study aimed to evaluate the contributions of levator ani muscle (LAM) injury, vesical neck movement, urethral length and mobility, and urethral sphincter dysfunction observed on magnetic resonance imaging (MRI) towards stress urinary incontinence (SUI) after vaginal delivery.Materials and methodsFifty primiparous women after 6 months of delivery (15 with SUI and 35 without) and 35 nulliparous as continent controls underwent MRI at rest and Valsalva maneuver. A published levator ani scoring system was used to characterize morphological changes of LAM. The severity of the injury was divided into three categories as none, minor, and major. A series of common parameters including levator plate angle, iliococcygeal angle, and levator hiatus were used to describe the functional conditions of LAM. Urethral mobility was defined based on the rotation of the urethra between Valsalva and rest status. Vesical neck movement was evaluated by its distance to the pubococcygeal line. Urethral sphincter dysfunction was defined as the widening of the proximal urethra and/or funneling at the urethrovesical junction during Valsalva.ResultsPrimiparous incontinent (PI) women had additional major levator ani defects (33.3% vs. 17.1%) while less minor defects (0.7% vs. 31.4%) than primiparous continent (PC) women. Vesical neck downward movement in PI women was more obvious than PC women (28.5 mm vs. 24.2 mm, p = 0.006). Urethral mobility was more active in primiparous women than in nulliparous continent controls (57.4 vs. 52.4), whereas no difference was observed on urethral mobility in the primiparous group (p = 0.25). Urethral sphincter dysfunction and funneling were present in 80% of PI women versus 22.9% in PC women (p < 0.001).ConclusionThe MRI findings revealed that de novo SUI was associated with major LAM injury, vesical neck downward movement as well as urethral sphincter dysfunction. Vesical neck funneling on sagittal images can be treated as a valuable predictor for SUI. The intervention for the PI should focus on the elevation of vesical neck, rehabilitation of LAM as well as recovery of the urethral sphincter muscle.

Project description:Introduction and hypothesisClinical trials for stress urinary incontinence (SUI) require a robust, reliable, and responsive tool for objective assessment of SUI post-intervention. The Aberdeen Home Continence Stress Test (HCST) is a novel patient-reported objective assessment tool, aimed to be patient-friendly and reduce attrition rates by avoiding hospital appointments and prolonged pad-wearing. We aim to describe the HCST for the first time and evaluate its reliability, diagnostic accuracy, and response to change.MethodsA secondary analysis of the Single-Incision Mini-Slings (SIMS) study (a prospective multicentre randomised control trial (RCT) comparing two surgical treatments of SUI was performed. In SIMS (n = 600 women), the objective outcome was assessed by the 24-h pad test, while the patient-reported success rates were assessed using the Patient Global Impression of Improvement (PGI-I) at 15 months, 2 years and 3 years post-randomisation. Participants were instructed to perform the HCST before and after the 24-h pad test. The HCST was analysed in relation to reliability, validity, and the relationship between the 24-h pad test and HCST results and finally with regard to its responsiveness to change in PGI-I. (Trial registration-number ISRCTN93264234, registration date 14/01/2014).ResultsCompared to the 24-h pad test, the sensitivity of the HCST ranged from 0.81-0.95, specificity was 0.76-0.79, negative predictive value was 0.96-0.99 and positive predictive value was 0.32-0.43. Reliability was indicated by high-performing Cronbach's alpha value (> 0.7). An improvement of ≥ 2 leakage groups on the HCST (for example from Large at baseline to Small leakage at follow-up) was strongly associated with patient-reported success on PGI-I (OR 4.38, 95% CI 2.31, 8.31).ConclusionsThe HCST is a valid and reliable patient-reported objective assessment tool that can be used for assessing SUI in surgical trials with good specificity, sensitivity, and consistency.

Dataset Information

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

Publications

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

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