Association of Mmp1 Promoter Variant With Stress Urinary Incontinence and Pelvic Organ Prolapse in Women

Vishwajit, Sonia; Rohozinski, Jan; Andersson, Karl‐Erik; Badlani, Gopal H.

doi:10.1016/s0022-5347(09)61363-x

Cited by 6 publications

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“…The other explanation of our results is that the association is simply too small to detect. This is in contrast to the results of the study by Vishwajit et al [26], where a link between the 2G/2G MMP-1 polymorphism and the risk of POP and SUI was found. The explanation for this discrepancy could be the weak statistical power of this study with just 28 subjects enrolled.…”

Section: Discussioncontrasting

confidence: 99%

The polymorphisms of the MMP-1 and the MMP-3 genes and the risk of pelvic organ prolapse

et al. 2012

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Introduction and hypothesisTo investigate the associations between single nucleotide polymorphism (SNP) type 1G/2G at position −1607/−1608 of the matrix metalloproteinase (MMP)-1 gene and SNP type 5A/6A at position −1612/-1617 of the MMP-3 gene and the development of pelvic organ prolapse (POP) in women.Methods133 patients with symptomatic POP were included in the study group. The control group consisted of 132 women with a normal pelvic floor. 1G/2G MMP-1 and 5A/6A MMP-3 SNPs were determined by polymerase chain reaction (PCR) and restriction fragments length polymorphism analysis.ResultsWhen estimated individually none of the investigated SNPs were associated with POP. The combined MMP-1/MMP-3 SNP analysis showed that the following polymorphic pairs were overrepresented in women with POP: 1G/2G −5A/6A, 2G/2G −5A/6A, 2G/2G −5A/5A, 1G/1G −6A/6A, p = 0.005.ConclusionsThe combined effect of −1607/−1608 MMP-1 and −1612/−1617 MMP-3 SNPs may contribute to the development of POP in some women.

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Section: Discussioncontrasting

confidence: 99%

The polymorphisms of the MMP-1 and the MMP-3 genes and the risk of pelvic organ prolapse

et al. 2012

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“…Other genes, including LAMC1, MMP1, MMP3 and MMP9, have been tested for association with urinary incontinence and prolapse [10][11][12]. Among these, only MMP1 was described as being associated with stress urinary incontinence [13]. However, meta-analyses of polymorphisms of these genes have not shown significant effects, and the studies were furthermore reported as Bprone to bias due to genotyping errors or population stratification^ [9].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

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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.

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Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse

et al. 2021

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Introduction and hypothesis Family and twin studies demonstrate that pelvic organ prolapse (POP) is heritable, but the genetic etiology is poorly understood. This review aimed to identify genetic loci and specific polymorphisms associated with POP, while assessing the strength, consistency, and risk of bias among reported associations. Methods Updating an earlier systematic review, PubMed and HuGE Navigator as well as relevant conference abstracts were searched using genetic and phenotype keywords from 2015 to 2020. Screening and data extraction were performed in duplicate. Fixed and random effects meta-analyses were conducted using co-dominant models of inheritance. We assessed credibility of pooled associations using interim Venice criteria. Results We screened 504 new abstracts and included 46 published and 7 unpublished studies. In pooled analyses we found significant associations for four polymorphisms: rs2228480 at the ESR1 gene (OR 0.67 95% CI 0.46–0.98, I2 = 0.0%, Venice rating BAB), rs12589592 at the FBLN5 gene (OR 1.46 95% CI 1.11–1.82, I2 = 36.3%, Venice rating BBB), rs484389 in the PGR gene (OR 0.61 95% CI 0.39–0.96, I2 = 32.4%, Venice rating CBB), and rs1800012 at the COL1A1 gene (OR 0.80 95% CI 0.66–0.96, I2 = 0.0%, Venice rating BAB). Further credible novel variants have also been recently identified in genome-wide association studies. Conclusion The genetic contributions to POP remain poorly understood. Several biologically plausible variants have been identified, but much work is required to establish the role of these genes in the pathogenesis of POP or to establish a role for genetic testing in clinical practice.

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Association of Mmp1 Promoter Variant With Stress Urinary Incontinence and Pelvic Organ Prolapse in Women

Cited by 6 publications

References 0 publications

The polymorphisms of the MMP-1 and the MMP-3 genes and the risk of pelvic organ prolapse

The polymorphisms of the MMP-1 and the MMP-3 genes and the risk of pelvic organ prolapse

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

Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse

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