rSNP_Guide-based evaluation of SNPs in promoters of the human APC and MLH1 genes associated with colon cancer

We examined six regulatory SNPs (Single Nucleotide Polymorphisms) of two human genes, APC and MLH1 (rs75996864, rs76241113, rs78037487, rs80112297, rs80313086, and rs1800734), using the previously developed rSNP_Guide technology to calculate the significance of the changes in the binding of the SNP region to a set of 40 transcription factors. For each SNP, all tested proteins were ranked according to the significance of the changes in their affinity to the allelic DNA sequences and evaluated using Student’s t-test. We found that rs75996864, rs76241113, rs78037487, rs80112297, and rs80313086 alleles of the APC, as well as rs1800734 of the MLH1, promote stronger binding of the transcription factors, NF-Y, NFkB, c-Myb, RAR, YY-1, and Sp-1, all of which have been previously implicated in the progression of colon cancer. Our results substantiate further experimental analysis of the association between colon cancer and the five examined APC alleles (rs75996864, rs76241113, rs78037487, rs80112297, and rs80313086) using the commonly accepted human genetics methods.