[Single nucleotide polymorphism in the matrix metalloproteinases promoter is associated with susceptibility to endometriosis and adenomyosis].

OBJECTIVE: To investigate the association of the matrix metalloproteinases (MMP) 1, 3 promoter single nucleotide polymorphism (SNP) with the susceptibility to endometriosis (EM) and adenomyosis.

METHODS: The SNP of the MMP-1 and MMP-3 gene promoter region was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) among 100 endometriosis patients, 80 adenomyosis patients and 150 unrelated healthy women.

RESULTS: (1) The frequency of 2G allelotype of MMP-1 in the EM and adenomyosis patients (79.0% and 79.4%, respectively) was significantly different from the control (67.0%) (P < 0.01). The frequencies of 1G/1G, 1G/2G and 2G/2G genotypes of EM and adenomyosis patients were significantly different from that in healthy controls (P < 0.05). Compared with 1G/1G genotype, both 2G/2G alone and in combination with 1G/2G genotype significantly increased the risk of developing EM (adjusted odds ratio was 3.65 and 3.25, 95% CI = 1.41-9.43 and 1.29-8.23, respectively), but only 2G/2G genotype significantly enhanced the risk of developing adenomyosis. (2) The frequencies of the 5A and 6A allelotype of MMP-3 among EM (14.0% and 86.0%, respectively) and adenomyosis patients (15.6% and 83.4%, respectively) were not significantly different from healthy controls (20.3% and 79.7%, respectively) (P > 0.05). The genotype distribution of 5A/5A, 5A/6A and 6A/6A in patients was not significantly different from controls (P > 0.05). Compared with the 6A/6A genotype, neither the 5A/5A alone nor in combination with the 5A/6A genotype significantly modified the risk of developing EM and adenomyosis. (3) The distribution of haplotype (1G/6A, 2G/6A, 1G/5A and 2G/5A) frequency of MMP-1 and MMP-3 SNP was significantly different between cases and controls. Compared with the 1G/6A haplotype, 2G/6A haplotype significantly enhanced the risk of developing EM, but not significantly enhanced the risk of developing adenomyosis.

CONCLUSION: Individuals with the MMP-1 2G allelotype have significantly increased risk of developing EM and adenomyosis; MMP-3 promoter SNP is not associated with susceptibility to EM and adenomyosis, 2G/6A haplotype could be used as a stratified marker for EM.