Type I collagen and matrix metalloproteinase 1, 3 and 9 gene polymorphisms in the predisposition to pelvic organ prolapse.

Aim: To evaluate whether the presence of specific polymorphism in the gene promoter of collagen and some matrix metalloproteinases was associated with the risk of developing pelvic organ prolapse.

Methods: A case-control study was carried on 233 women: 137 were cases with ≥ stage II pelvic organ prolapse and 96 were matched controls without pelvic pathologies. Allele and genotype frequencies related to polymorphisms at the Sp1 site of type I collagen and some functional polymorphisms in the promoters of metalloproteinases-1, -3 and -9 have been compared between groups. It has been shown that these single-insertions/deletions polymorphisms located in the promoter region of the genes have a functional significance in the regulation of their transcriptional level and local expression. Genotypes were determined by polymerase chain reaction (PCR) amplification and sequence analysis. SPSS 14.0 software was used for data analysis. Probability values of <0.05 were considered statistically significant.

Results: No difference between groups was found in the genotype distribution polymorphisms for COL1A1, metalloproteinases-9 and -3, while the distribution of the polymorphism of metalloproteinases-1 was significantly increased in the cases when compared with controls (p = 0.04).

Conclusions: Our findings suggest that the polymorphism of metalloproteinases-1 might have a role in mediating susceptibility to pelvic organ prolapse.