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

Paweł Skorupski,Małgorzata Marczak,Paweł Miotła,Katarzyna Jankiewicz,Tomasz Rechberger,Beata Kulik-Rechberger

doi:10.1007/s00192-012-1970-1

Abstract

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.

Highlights

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 single nucleotide polymorphisms (SNPs) type 5A/6A at position −1612/1617 of the MMP-3 gene and the development of pelvic organ prolapse (POP) in women
The combined effect of −1607/−1608 MMP-1 and −1612/−1617 MMP-3 SNPs may contribute to the development of POP in some women
The aim of the study was to estimate the associations between the SNP at position −1607/−1608 of the MMP-1 gene and the SNP at position −1612/−1617 of the MMP-3 gene, and between the combinations of the genotypes created by the above-mentioned SNPs and the risk of pelvic organ prolapse

Summary

Introduction

To 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. The control group consisted of 132 women with a normal pelvic floor. Pelvic organ prolapse (POP) affects 10–40% of older women [1]. The main structural protein of connective tissue is type I collagen—a heterotrimer comprising two α-1(I) and single α-2(I) chains encoded by the genes COL1A1 and COL1A2 respectively [3]. The important physiological role of this protein is to provide support for the pelvic floor structures. MMP-1 plays a major role in the collagen type I degradation, whereas MMP-3 is able to activate other MMPs, including MMP-1 [4]

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