Analysis Of SNP Rs2252070 Of MMP13 Gene In Human Esophageal Squamous Cell Carcinoma In Iranian Population

Esophageal cancer is the eight most common cancers and the sixth leading cancer death worldwide.Matrix metalloproteinases (MMPs) include a large group of calcium-dependent zinc containingendopeptidases with the capacity to split peptide bonds in most extracellular matrix proteins.MMP13 as a collagenase, plays a critical role in development of esophageal squamous cellcarcinoma (ESCC). Therefore, we tested association SNP rs2252070 of MMP13 in patients with ESCC.DNA was extracted from the blood of 86 healthy individuals and the formalin-fixed paraffinembedded(FFPE) of tumor tissue and corresponding margin-normal esophageal of 80 patients. Thepolymorphism rs2252070 was studied by RFLP-PCR and sequencing techniques. Initial resultsshowed that the frequency of G allele was more frequent than A allele in compared with the controlgroup. This findings have shown that MMP13 gene polymorphism could affect the promoteractivities. We found that MMP13 rs2252070 G> A genetic polymorphism is significantly associatedwith ESCC risk in Iranian populations.