EGFR gene polymorphisms -216G>T and -191C>A are risk markers for gastric cancer in Mexican population

• Published in: Genetics and molecular research Vol. 14; no. 1; pp. 1802 - 1807
• Main Authors: Torres-Jasso, J H, Marín, M E, Santiago-Luna, E, Leoner, J C, Torres, J, Magaña-Torres, M T, Perea, F J, Ibarra, B, Sánchez-López, J Y
• Format: Journal Article
• Language: English
• Published: Brazil 13.03.2015
• Subjects: Adult; Aged; Aged, 80 and over; Alleles; Female; Gene Frequency; Genotype; Humans; Introns; Male; Mexico; Middle Aged; Polymorphism, Single Nucleotide; Prognosis; Receptor, Epidermal Growth Factor - genetics; Risk Factors; Stomach Neoplasms - diagnosis; Stomach Neoplasms - genetics; Mexico
• ISSN: 1676-5680; 1676-5680
• DOI: 10.4238/2015.March.13.8

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase activity that plays an important role in multiple cellular functions. EGFR overexpression has been observed in several types of tumors and it is significantly associated with disease stage, survival, prognosis, and progression of cancer. The polymorphisms -216G>T, -191C>A, and (CA)n first intervening sequence (IVS1) have been related to EGFR overexpression and have been studied in several types of cancer, but not in gastric cancer (GC). The aim of this study was to determine the association of these 3 polymorphisms and GC. Genomic DNA from 68 GC patients and 102 healthy blood donors were analyzed. Polymorphisms were identified by DNA-sequencing (-216G>T and -191C>A) and GeneScan (CA)n IVS1. The results showed that the distribution of the -216G>T and -191C>A genotypes differed between groups (P < 0.05). The odds ratio for the -216TT genotype was 4.59 (95% confidence interval = 1.55-13.54, P < 0.05) and 10.71 (95% confidence interval = 2.31-49.59, P < 0.05) for the -191AA genotype, both in a recessive model. The genotype and allele distributions of the (CA)n IVS1 repeat was similar in both groups. In conclusion, the -216TT and -191AA genotypes and GA haplotype of the EGFR gene were found to be associated with an increased risk of gastric cancer in a Mexican population.