Association between SMAD7 Gene Polymorphism rs4939827 (T>C) and Colorectal Cancer

Abstract Background Colorectal cancer (CRC) is a global disease with a high incidence and mortality rates. In Egypt, more than one third of CRC cases occur in individuals aged 40 years or younger and they are diagnosed at advanced stages. Modifiable risk factors include obesity, physical inactivity, diet, and smoking and non-modifiable risk factors such as age, sex play an influential role in CRC etiology. Single nucleotide polymorphisms (SNPs) have been shown as appropriate markers that can predict the susceptibility to various diseases such as CRC. Objective This study aimed to investigate the association of SMAD7 gene polymorphism (T > C) with CRC. Materials and Methods This study was designed as a case–control association study. After obtaining ethical approval and informed consent, blood samples from 30 CRC patients with colorectal cancer were collected and DNA was extracted. The rs4939827 of SMAD7 was genotyped using TaqMan assay Real-Time PCR. Results The C allele of SMAD7 rs4939827 could be protective against colorectal cancer risk. Allele frequency in CRC patients compared to controls (50% vs 55%): OR = 1.58, 95%CI (0.72–3.47), p > 0.05. Conclusion The study demonstrated the presence of a non statistically significant relation between T>C polymorphism and CRC However, the (C) allele could be protective for CRC and (T) allele could be associated with a higher stage of CRC.