Determining the role of Exonuclease1 gene polymorphism G>A rs1047840 and risk of colorectal cancer

Colorectal cancer (CRC) is the third common type of cancer and the second leading cause of death in cancer. DNA damages and chromosomal instability are the greatest risk factors favoring the development of CRC. Exo1 is the only exonuclease involved in the MMR system. In this study because of the important role of Exo1 and in order to assess the susceptible biomarkers associated with the CRC، we have investigated the correlation between SNP of Exo1 gene rs1047840 and risk of CRC.

This case-control study was performed on 118 cases and 130 healthy controls who had been referred to Taleghani hospital of Tehran. We analysed genotyping using polymerase chain reaction- restriction fragment length polymorphism and using MseI restriction enzyme.

According to our findings the frequencies of AA، AG،GG genotypes in control group were 49/3%، 43/8% and 6/9% and in patient group were 44/9%، 47/5% and 7/6%. The frequency of G and A allels were 71/2% and 28/8% in healthy controls and 68/6% and 31/4% in patients.

Base on our findings، rs1047840 polymorphism is not associated with susceptibility to CRC and so we reached on a conclusion that this polymorphism possibly doesn’t have significant role in increasing or decreasing risk of CRC.