Matrix metalloproteinase 1, 3, and 9 polymorphisms and esophageal squamous cell carcinoma risk.

[esophageal squamous cell carcinoma]

Background Matrix metalloproteinases (MMPs ) are multifunctional zinc-dependent proteinases that play a fundamental role in the pathogenesis of tumors . We have analyzed the association between 3 single -nucleotide polymorphisms (SNPs ; MMP 1 -1607 1 G /2 G , MMP 3 -1612 5 A /6 A , and MMP 9 -1562 C /T ) and the risk of esophageal squamous cell carcinoma (ESCC ). Material and Methods We investigated these 3 SNPs in 132 patients and 132 controls using polymerase chain reaction-restriction fragment length polymorphism methods . The MMP 1 and MMP 3 genes are located on the same chromosome . Haplotype analysis was performed to study the combined effect of the linked MMP polymorphisms on ESCC risk . Results The MMP 1 and MMP 9 promoter polymorphisms were not associated with ESCC risk , while the MMP 3 -1612 5 A /6 A polymorphism was significantly associated with susceptibility to ESCC . Patients carrying the 5 A allele had a significantly higher risk for developing ESCC compared with individuals carrying the 6 A allele (OR =1 .93 ; 95 % CI 1 .34 -2 .77 ; p <0 .01 ). The 2 G-5 A and 1 G-5 A haplotypes were associated with a significantly increased risk of ESCC as compared with the 2 G-6 A haplotype (OR =2 .04 , 95 % CI 1 .37 -3 .04 and OR =3 .65 , 95 % CI 1 .26 -10 .55 , respectively ). Conclusions These findings implicate this MMP 3 polymorphism as a contributor to ESCC susceptibility .