Intron 4 VNTR (4a/b) polymorphism of the endothelial nitric oxide synthase gene is associated with breast cancer in Mexican women

• Published in: Journal of Korean medical science 2013, 28(11), 182, pp.1587-1594
• Main Authors: Ramírez-Patiño, Ramiro, Figuera, Luis Eduardo, Puebla-Pérez, Ana María, Delgado-Saucedo, Jorge Iván, Legazpí-Macias, María Magdalena, Mariaud-Schmidt, Rocio Patricia, Ramos-Silva, Adriana, Gutiérrez-Hurtado, Itzae Adonai, Gómez Flores-Ramos, Liliana, Zúñiga-González, Guillermo Moisés, Gallegos-Arreola, Martha Patricia
• Format: Article
• Language: English
• Subjects: Adult; Alanine Transaminase - blood; Aspartate Aminotransferases - blood; Breast Neoplasms - blood; Breast Neoplasms - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Mexico; Middle Aged; Nitric Oxide - biosynthesis; Nitric Oxide - metabolism; Nitric Oxide Synthase Type III - genetics; Original; Polymorphism, Single Nucleotide; 의학일반
• ISSN: 1011-8934; 1598-6357
• DOI: 10.3346/jkms.2013.28.11.1587

The endothelial nitric oxide synthase (eNOS) gene plays an important role in several biological functions. Polymorphisms of the eNOS gene have been associated with cancer. It has been suggested that the VNTR 4 a/b polymorphism may affect the expression of eNOS and contributes to tumor promotion in the mammary gland. We examined the role of the eNOS4 a/b polymorphism by comparing the genotypes of 281 healthy Mexican women with the genotypes of 429 Mexican women with breast cancer (BC). The observed genotype frequencies for control and BC patients were 0.6% and 0.7% for a/a (polymorphic); 87% and 77% for a/a (wild type); and 12% and 22% for a/b respectively. We found that the odds ratio (OR) was 1.9, with a 95% confidence interval (95%CI) of 1.29-2.95, P = 0.001 for genotypes a/a-a/b, b/c. The association was also evident when comparing the distribution of the a/a-a/b genotypes in patients with high levels of glutamate-oxaloacetate transaminase (SGOT) (OR, 1.93; 95% CI, 1.14-3.28; P = 0.015); undergoing menopause with high levels of SGOT (OR, 2.0; 95% CI, 1.1-3.84); and with high levels of glutamic-pyruvic transaminase (SGPT) (OR, 3.5; 95% CI, 1.56-8.22). The genotypes a/a-a/b are associated with BC susceptibility in the analyzed samples from the Mexican population.