PURPOSE: Matrix metalloproteinase-1 and matrix metalloproteinase-3 are implicated in all steps of cancer initiation, invasion, and metastasis. Recently, several genetic studies have demonstrated that matrix metalloproteinase-1-1607 ins/delG (1G/2G) polymorphism and matrix metalloproteinase-3-1612 ins/delA (5A/6A) polymorphism modify each transcriptional activity in allele-specific manners. In this study, we investigated whether these functional polymorphisms are associated with colorectal cancer in a Chinese population. METHODS: Matrix metalloproteinase-1 and matrix metalloproteinase-3 genotypings were performed on 126 pathologically diagnosed colorectal cancer patients and 126 age-matched and gender-matched controls by polymerase chain reaction-based denaturing high-performance liquid chromatography analysis or restriction fragment length polymorphism, respectively. RESULTS: The distributions of the matrix metalloproteinase-1 and matrix metalloproteinase-3 genotypes in healthy control subjects were inconsistent with Hardy-Weinberg equilibrium. Neither the genotype frequencies nor allele frequencies of matrix metalloproteinase-1 and matrix metalloproteinase-3 polymorphisms showed significant difference from those in healthy control subjects. There also were no significant associations between matrix metalloproteinase-1 and matrix metalloproteinase-3 genotypes and clinicopathologic features. When we examined the linkage disequilibrium between these two single nucleotide polymorphisms using expectation-maximization algorithm, we found that the two single nucleotide polymorphisms were in a strong linkage disequilibrium, but no significant difference was found in haplotype distribution. CONCLUSIONS: Our present data suggest that the matrix metalloproteinase-1 and matrix metalloproteinase-3 promoter polymorphisms may not be useful markers to predicate susceptibility of colorectal cancer in Chinese.
PURPOSE:Matrix metalloproteinase-1 and matrix metalloproteinase-3 are implicated in all steps of cancer initiation, invasion, and metastasis. Recently, several genetic studies have demonstrated that matrix metalloproteinase-1-1607 ins/delG (1G/2G) polymorphism and matrix metalloproteinase-3-1612 ins/delA (5A/6A) polymorphism modify each transcriptional activity in allele-specific manners. In this study, we investigated whether these functional polymorphisms are associated with colorectal cancer in a Chinese population. METHODS:Matrix metalloproteinase-1 and matrix metalloproteinase-3 genotypings were performed on 126 pathologically diagnosed colorectal cancerpatients and 126 age-matched and gender-matched controls by polymerase chain reaction-based denaturing high-performance liquid chromatography analysis or restriction fragment length polymorphism, respectively. RESULTS: The distributions of the matrix metalloproteinase-1 and matrix metalloproteinase-3 genotypes in healthy control subjects were inconsistent with Hardy-Weinberg equilibrium. Neither the genotype frequencies nor allele frequencies of matrix metalloproteinase-1 and matrix metalloproteinase-3 polymorphisms showed significant difference from those in healthy control subjects. There also were no significant associations between matrix metalloproteinase-1 and matrix metalloproteinase-3 genotypes and clinicopathologic features. When we examined the linkage disequilibrium between these two single nucleotide polymorphisms using expectation-maximization algorithm, we found that the two single nucleotide polymorphisms were in a strong linkage disequilibrium, but no significant difference was found in haplotype distribution. CONCLUSIONS: Our present data suggest that the matrix metalloproteinase-1 and matrix metalloproteinase-3 promoter polymorphisms may not be useful markers to predicate susceptibility of colorectal cancer in Chinese.