title: EGFR gene polymorphisms -216G>T and -191C>A are risk markers for gastric cancer in Mexican population.
abstract: 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.
authors: División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, México.
authors: J H
authors: JH
authors: Torres-Jasso
authors: Servicio de Endoscopías, Unidad Médica de Atención Ambulatoria No. 52, IMSS, Guadalajara, Jalisco, México.
authors: M E
authors: ME
authors: Marín
authors: Servicio de Endoscopías, Hospital de Especialidades, Centro Médico Nacional de Occidente, IMSS, Guadalajara, Jalisco, México.
authors: E
authors: E
authors: Santiago-Luna
authors: Servicio de Oncología, Hospital de Especialidades, Centro Médico Nacional de Occidente, IMSS, Guadalajara, Jalisco, México.
authors: J C
authors: JC
authors: Leoner
authors: Unidad de Investigación Médica de Enfermedades Infecciosas y Parasitarias, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, México.
authors: J
authors: J
authors: Torres
authors: División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, México.
authors: M T
authors: MT
authors: Magaña-Torres
authors: División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, México.
authors: F J
authors: FJ
authors: Perea
authors: División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, México.
authors: B
authors: B
authors: Ibarra
authors: División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, México yosalo1795@yahoo.com.
authors: J Y
authors: JY
authors: Sánchez-López
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D066246:ErbB Receptors / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008800:Mexico; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D012307:Risk Factors; D013274:Stomach Neoplasms / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors