Genes · 2025
Genetic Variants in RASSF1 (rs2073498), SERPINE1 (rs1799889), and EFNA1 (rs12904) Are Associated with Susceptibility in Mexican Patients with Colorectal Cancer: Clinical Associations and Their Analysis In Silico.
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Tovar-Jácome César de Jesús, Juárez-Vázquez Clara Ibet, Gallegos-Arreola Martha Patricia, García-Ortiz José Elías, Marín-Contreras María Eugenia, Pineda-Razo Tomás Daniel, Mariscal-Ramírez Ignacio, Durán-Anguiano Oscar, Alcaraz-Wong Aldo Antonio, González-Sánchez Rubria Alicia, Mundaca-Rodríguez Marina Lizbeth, Godínez-Rodríguez Miriam Yadira, Corona-Padilla Marlín, Rosales-Reynoso Mónica Alejandra
Аннотация
Background/Objectives: Colorectal cancer (CRC) is the second leading cause of cancer death worldwide. Variants in genes that regulate processes such as apoptosis and angiogenesis play a significant role in CRC. The objective of this study is to investigate the possible association between RASSF1 (rs2073498), SERPINE1 (rs1799889), EFNA1 (rs12904), and RAD51 (rs1801320) variants and clinicopathological characteristics of Mexican patients with CRC. Methods: DNA of peripheral blood samples was obtained from 631 individuals (349 patients and 282 control individuals). The RASSF1 (rs2073498), SERPINE1 (rs1799889), EFNA1 (rs12904), and RAD51 (rs1801320) variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The association was calculated using the odds ratio (OR) test. p-values were adjusted by the Bonferroni test (0.0125). In silico analysis programs, including Combined Annotation Dependent Depletion (CADD), Polymorphism Phenotyping-2 (PolyPhen-2), and Gene Expression Profiling Interactive Analysis (GEPIA), were conducted to predict the functional impact of these variants. Results: Patients carrying the G/A genotype of the RASSF1 (rs2073498) variant showed an association with CRC characteristics, including TNM stages and tumor location (OR > 2.5, p = 0.001). Regarding the SERPINE1 (rs1799889) variant, patients carrying the 5G/4G genotype showed an association between TNM stages and tumor location in the rectum (OR > 1.5, p ≤ 0.05). Patients with the G/G genotype for the EFNA1 (rs12904) variant showed an association with TNM stages and rectal tumor location (OR > 2.0, p = 0.001). The RAD51 (rs1801320) variant had no association with colorectal cancer. Conclusions: RASSF1 (rs2073498), SERPINE1 (rs1799889), and EFNA1 (rs12904) variants significantly influence colorectal cancer risk.