Investigation of macc1-asi gene mutation in colorectal cancer by using molecular techniques

Colorectal cancer is the most frequent cause of morbidity and mortality in the Western world. The newly discovered MACC1 acts as a key regulator of HGF/Met pathway and express highly in colorectal cancer. MACC1 can serve as a prognostic indicator for colon and other cancer invasion and metastasis. Potential links between genetic diversity of the MACC1 AS1 locus and high expression of MACC1 are unknown. In this study, the secondary structure of MACC-AS1 RNA and the complementarity between MACC1 mRNA and MACC1-AS1 RNA were analyzed by RNAFold and IntaRNA programs. Therefore, this is the first study investigating the association between genomic variations in the MACC1-AS1 and the colorectal cancer. The study included 104 control and 96 patient samples. Genomic DNA was isolated from blood specimens, analyzed by PCR and SSCP and subjected to sequence analysis. We observed three different fragments and six genotypes (1,2,3,1&2,1&3,2&3) in the exon one of MACC1-AS1 in patient and control samples. As a result of sequence analysis, A and GT (rs200028381) insertions in genotype 1, G>A substitution and A insertion in genotype 2 were detected. However, no association was observed between these SNPs and prognosis of colorectal cancer. As a conclusion; this study is the first investigation of MACC1-AS1 mutation in colorectal cancer by using molecular techniques. Some novel SNPs in the exon 1 of MACC1-AS1 were identified. In order to understand the association between colorectal tumors and MACC1-AS1 status clearly; further analysis, like Western blotting, immunohistochemistry of MACC1 and RNA analysis for MACC1-AS1, are needed.