Association of Adenometous Polyposis Coli (APC) I1307K VariantPolymorphism with Colorectal Cancer among Selected Pakistani Population

Abstract

Colorectal cancer is the result of abnormal growth of cells in colon and rectum. It is the major cause of mortality and morbidity globally. Among all cancer occurrence, CRC accounts for over 9%. In women, colorectal cancer is the seventh most common cancer and the ninth most common cancer in men, in Pakistan. Numerous risk factors are responsible for colorectal cancer, mainly age, smoking, alcohol consumption, family history and physical inactivity. Colorectal cancer due to genetic alterations occurs approximately with rate of 10% while sporadic colorectal cancer occurs with the rate of 90%. Adenomatous Polyposis Coli (APC) is a tumor suppressor gene and mutation in this gene downregulates the β-catenin which in turn activates the transcription of oncogenes. The objective of the present study is to analyze the significant association of APC I1307K (T→A) polymorphism with colorectal cancer in selected Pakistani population. This study includes 100 sporadic samples of CRC and 50 healthy controls. DNA was extracted from all CRC samples and controls. ARMS-PCR was performed to genotype APC I1307K polymorphism. Among three genotypes, TT, TA, AA, only two genotypes TT and TA were found in current study. Occurrence of APC I1307K was found to be significantly greater in CRC patients compared to controls (P-value 0.0000). Calculated allelic frequency of A allele was higher in patients (0.65%) than controls (0%). On the basis of significant statistical results, we may say that in our selected population, an association between APC I1307K variant and colorectal cancer was present.