Identification of a single nucleotide polymorphism in the MMP-1 promoter in chondrosarcoma

Matrix metalloproteinases (MMPs) are a group of at least 26 enzymes that facilitate cellular invasion via the degradation of the extracellular matrix. Specifically, the ability to degrade collagen types III and I is important in tumor invasion and metastasis. Over expression of the MMP-1 gene has been shown to correlate with poorer outcome in GI tract and gynecological tumors. This level of expression of this gene has been shown to be significantly increased by the presence of a single nucleotide polymorphism in the MMP-1 promoter sequence as a result of the creation of an ETS binding site. This SNP results from the addition of a single guanine base at -1,607 bp 24. Two chondrosarcoma cell lines and a series of 10 resected chondrosarcoma specimens underwent DNA extraction, purification, polymerase chain reaction, and sequencing. The presence of the single nucleotide polymorphism at -1,607 bp was confirmed within the promoter region for MMP-1 in human chondrosarcoma. Because all three genotypes were found in the clinical samples, the SNP may indeed provide a mechanistic explanation for a more aggressive biologic behavior locally and distally for a subset of chondrosarcomas.