• Christian O González-Villaseñor, Angélica A Ramírez-Guerrero, José M Moreno-Ortiz, Evelia Leal-Ugarte, Valeria Peralta-Leal, and Nelly M Macías-Gómez.
• Human Genetics Laboratory, University Center of the South, Universidad de Guadalajara, Jalisco.
• Gac Med Mex. 2022 Jan 1; 158 (5): 283288283-288.

IntroductionColorectal cancer (CRC) is a complex disease due to the large number of factors that influence its development, including variants in tumor suppressor genes.ObjectiveTo estimate allelic and genotypic frequencies of c.3915G>A and c.5371G>A variants of the TSC2 gene in a Mexican population with CRC, as well as to analyze their association with the development of CRC.Methods126 peripheral blood samples from patients diagnosed with sporadic CRC and 134 from healthy individuals, regarded as the control group, were included. Identification of genotypes was carried out using traditional PCR and enzymatic digestion. All individuals signed an informed consent letter.ResultsThe A allele of the c.3915G>A variant (OR = 0.31, 95% CI = 0.15-0.69, p = 0.004), as well as A/G haplotype of the c.3915G>A and c.5371G>A variants (OR = 0.28, 95% CI = 0.12-0.68, p = 0.005) showed a possible protective effect against sporadic CRC. In silico analysis indicated that both variants generate modifications in the splicing process.ConclusionThe presence of TSC2 gene c.3915G>A variant suggests a possible protective effect against sporadic CRC in the Mexican population; however, no association was observed with the c.5371G>A variant.Copyright: © 2022 Permanyer.

17 keywords...

hide…