Facultad de Medicina e Ingeniería en Sistemas Computacionales de Matamoros, Universidad Autónoma de Tamaulipas, Sendero Nacional km 3, CP 87349, Col. San José, Matamoros, Tamaulipas, Mexico.
Centro Universitario del Sur, Universidad de Guadalajara, Av. Enrique Arreola Silva # 883, Col. Centro, Ciudad Guzmán, Jalisco, Mexico.
Genet Res (Camb). 2023 Oct 4;2023:5565646. doi: 10.1155/2023/5565646. eCollection 2023.
Colorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. Here, we analyzed the association of these polymorphisms with sporadic CRC in a northeastern Mexican population, including 155 male CRC patients and 155 male controls. Genotyping was performed using the RFLP method. An association with CRC was found for the 399A allele (G vs A; OR = 1.48 (1.03-2.13), =0.034) and for the 399AA genotype in a codominant model (AA vs GG; OR = 3.11 (1.06-9.10), =0.031). In contrast, there were no significant differences between CRC patients and controls for the C194T polymorphism (C vs T; OR = 0.82 (0.52-1.31), =0.41). These results are consistent with many similar studies, but further research is needed to verify whether the R194W and R399Q polymorphisms play a role in CRC etiology. The functional significance of these polymorphisms is unclear, but some studies suggest that they influence DNA repair capacity and, thus, cancer risk.
结直肠癌（CRC）是全球最常见的癌症之一。其发病机制复杂，主要受基因突变积累导致的遗传不稳定性影响。该基因参与 DNA 修复，其 R194W（C194T）和 R399Q（G399A）多态性与 CRC 相关，但结果不一致。在这里，我们分析了这些多态性与墨西哥东北部散发性 CRC 之间的关联，包括 155 名男性 CRC 患者和 155 名男性对照。采用 RFLP 法进行基因分型。发现 399A 等位基因（G 对 A；OR=1.48（1.03-2.13），=0.034）和 399AA 基因型在共显性模型中与 CRC 相关（AA 对 GG；OR=3.11（1.06-9.10），=0.031）。相比之下，CRC 患者和对照组之间 C194T 多态性（C 对 T；OR=0.82（0.52-1.31），=0.41）无显著差异。这些结果与许多类似的研究一致，但需要进一步研究来验证 R194W 和 R399Q 多态性是否在 CRC 病因学中起作用。这些多态性的功能意义尚不清楚，但一些研究表明它们影响 DNA 修复能力，从而影响癌症风险。
