Correlation between the EGF gene intronic polymorphism, rs2298979, and colorectal cancer

Abstract

Colorectal cancer (CRC) is an important disorder that results from genetic and epigenetic alterations in one colonic epithelial cell. Epidermal growth factor (EGF) is critical in the development of tumors in epithelial tissues. Variations in the DNA sequence of the EGF gene may be particularly significant with regard to susceptibility to CRC. The present study aimed to investigate the effect of the EGF gene single nucleotide polymorphism (SNP), rs2298979, on CRC. In this prospective study, 220 samples were collected from patients with CRC and compared with 220 matched healthy controls. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and the result was validated by direct sequencing. A significant correlation was observed between the rs2298979 variant in the EGF gene and CRC. The frequency of the A/G genotype in the control group was higher than in the patients with sporadic CRC [odds ratio (OR), 0.488; 95% confidence interval (CI), 0.307–0.774; P=0.002]. In this study there were no individuals with a G/G genotype. Although the frequency of the G and A alleles was similar in the healthy control and CRC patient groups, individuals with the A/G genotype were less susceptible to CRC compared with those with the A/A genotype.

cis-regulatory architecture of a short-range EGFR organizing center in the Drosophila melanogaster leg

“…Analogous EGFR CRMs are likely to exist in mammals, especially because complex interactions between BMP, Wnt, Shh, multiple Dlx paralogs and other factors, are implicated in the induction of FGF signaling in mammalian limb development. Consistent with this idea, specific single nucleotide polymorphisms (SNPs) in humans in non-coding loci of genes encoding EGFR ligands have been shown to be associated with different types of cancer [ 44 – 46 ]. Such loci may be enhancer elements analogous to vnE and rhoE .…”

The Polymorphisms of Epidermal Growth Factor-driven Signaling and Cancer Pathogenesis

“…A study conducted on Iranian population investigated the association of rs2298979 polymorphism, located in a noncoding region -intron 1 of EGF gene, with colorectal cancer. A/G genotype carriers were identified as less susceptible than the carriers of A/A genotype [23].…”

Nitric Oxide Synthase 3 Gene Variants and Colorectal Cancer: a Meta-Analysis

“…In order to discover the pathogenesis, many studies had conducted on various aspects such as genetic, life styles and environment. Recently, some studies indicated the significant association in the genes polymorphisms and CRC risk (Chaleshi et al, 2013;Kassab et al, 2014). NOS3, as one of the key gene, was said to play a key role in cancers and angiogenesis.…”