División de Genética, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico.
Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico.
Cells. 2023 Jul 26;12(15):1941. doi: 10.3390/cells12151941.
Colorectal cancer (CRC) is a major global health challenge and one of the top 10 cancers in Mexico. Lifestyle and genetic factors influence CRC development, prognosis, and therapeutic response; identifying risk factors, such as the genes involved, is critical to understanding its behavior, mechanisms, and prognosis. The association between gene variants (rs8720 and rs12587) and CRC in the Mexican population was analyzed. We performed in silico analysis and analyzed 310 healthy individuals and 385 CRC patients using TaqMan assays and real-time PCR. The CC and GG genotypes of rs8720 and rs12587 were identified as CRC risk factors ( < 0.05). The CC and TC genotypes of the rs8720 were associated with rectal cancer, age over 50 years, moderately differentiated histology, and advanced cancer stage. TG and GG genotypes of the rs12587 variant were a risk factor in the CRC group, in patients with stage I-II, males, and stage III-IV non-chemotherapy response. The haplotype is protected against CRC. The combined CCGG genotype was linked to CRC risk. In silico analysis revealed that the rs12587 and rs8720 variants could influence KRAS gene regulation via miRNAs. In conclusion, rs8720 and rs12587 variants of the gene were associated with CRC risk and could influence regulation via miRNAs.
结直肠癌（CRC）是全球主要的健康挑战之一，也是墨西哥十大癌症之一。生活方式和遗传因素影响 CRC 的发展、预后和治疗反应；确定风险因素，如涉及的基因，对于了解其行为、机制和预后至关重要。本研究分析了基因变异（rs8720 和 rs12587）与墨西哥人群 CRC 之间的关联。我们进行了计算机分析，并使用 TaqMan 测定法和实时 PCR 分析了 310 名健康个体和 385 名 CRC 患者。rs8720 和 rs12587 的 CC 和 GG 基因型被确定为 CRC 的危险因素（<0.05）。rs8720 的 CC 和 TC 基因型与直肠癌、年龄>50 岁、中度分化组织学和晚期癌症分期相关。rs12587 变异的 TG 和 GG 基因型是 CRC 组的危险因素，在 I-II 期、男性和 III-IV 期非化疗反应的患者中。该单倍型对 CRC 具有保护作用。CCGG 基因型与 CRC 风险相关。计算机分析显示，rs12587 和 rs8720 变异可能通过 miRNA 影响 KRAS 基因的调节。总之，基因的 rs8720 和 rs12587 变异与 CRC 风险相关，并可能通过 miRNA 影响的调节。
