Introduction and hypothesis: 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.
Methods: 133 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.
Results: When 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.
Conclusions: The combined effect of -1607/-1608 MMP-1 and -1612/-1617 MMP-3 SNPs may contribute to the development of POP in some women.