[Single nucleotide polymorphism in the matrix metalloproteinases promoter is associated with susceptibility to endometriosis and adenomyosis].
Copyright policy )[Single nucleotide polymorphism in the matrix metalloproteinases promoter is associated with susceptibility to endometriosis and adenomyosis].
To investigate the association of the matrix metalloproteinases (MMP) 1, 3 promoter single nucleotide polymorphism (SNP) with the susceptibility to endometriosis (EM) and adenomyosis.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.(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 0.05). 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.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.
- Fourth Hospital of Hebei Medical University China (People's Republic of)
Adult, Genotype, Endometriosis, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Matrix Metalloproteinases, Logistic Models, Gene Frequency, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, Matrix Metalloproteinase 3, Matrix Metalloproteinase 1, Promoter Regions, Genetic, Polymorphism, Restriction Fragment Length
Adult, Genotype, Endometriosis, Middle Aged, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Matrix Metalloproteinases, Logistic Models, Gene Frequency, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, Matrix Metalloproteinase 3, Matrix Metalloproteinase 1, Promoter Regions, Genetic, Polymorphism, Restriction Fragment Length
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