Association of Matrix Metalloproteinase-2 Promoter Genotypes With Leiomyoma Risk

The role of matrix metalloproteinase-2 (MMP-2) in leiomyoma pathogenesis has been suggested, but the association between MMP-2 genotypes and leiomyoma risk remains unexplored. This study investigated the impact of two MMP-2 polymorphisms, promoter -1306 (rs243865) and promoter -735 (rs2285053), on leiomyoma susceptibility.

MMP-2 genotypes were analyzed in a cohort of 216 leiomyoma females and 648 non-leiomyoma controls using PCR-based RFLP.

Genotypic distributions of MMP-2 rs243865 and rs2285053 in controls adhered to Hardy-Weinberg equilibrium (p=0.6161 and 0.3286, respectively). The heterozygous and homozygous variant genotypes of rs243865 were significantly associated with elevated leiomyoma risk (OR=1.63 and 4.33, 95%CI=1.13-2.35 and 1.67-11.16, p=0.0120 and 0.0027, respectively). The dominant model further revealed increased risk for CT and TT genotypes (OR=1.80, 95%CI=1.27-2.56, p=0.0013). The T allele at rs243865 was also significantly linked to higher risk (OR=1.84, 95%CI=1.35-2.50, p=0.0001). No significant association was found for rs2285053. Stratified analysis showed a significant interaction between rs243865 genotypes and age, with elevated risk in older females (p for trend=0.0003) and a notable association with larger tumors (p for trend=0.0029).

MMP-2 rs243865 CT and TT genotypes significantly contribute to leiomyoma risk, particularly in older women and those with larger tumors.