Peixoto Maurício, Viana-Pereira Marta, Amorim Maria Júlia, Marques Ana D, Freitas Diana, Cunha Joana, Pereira Filipa, Reis Rui, Couto Elisabete
Medical Oncology, Unidade Local de Saúde de Braga, Braga, PRT.
Oncology, School of Medicine and the Life and Health Sciences Research Institute, University of Minho, Braga, PRT.
Cureus. 2024 Sep 24;16(9):e70081. doi: 10.7759/cureus.70081. eCollection 2024 Sep.
Colorectal cancer (CRC) is a prevalent diagnosis worldwide with significant associated mortality. Single nucleotide polymorphic (SNP) variants have been identified as being associated with CRC risk. Although SMAD7 SNPs have been associated with the risk of developing CRC, their prognostic effect is still unclear. We carried out a case-control study to establish an association between genotypes of the suppressor of mothers against decapentaplegic (SMAD) 7 SNP rs4464148, rs4939827, and rs12953717 and CRC risk. Furthermore, we retrospectively assessed whether these SNPs had prognostic implications in CRC patients by evaluating survival with Kaplan-Meier curves and Cox regression. Only the CT genotype of the rs4939827 variant showed an association with CRC risk, and no genotype (CC, CT, or TT) of any of the three SNPs was shown to have prognostic implications in overall survival. Our study failed to show an association between certain SNP genotypes and the risk of CRC, which has already been well documented in two meta-analyses. Furthermore, it showed no prognostic relevance for these SNPs. More studies are needed to understand whether there are population variations or haplotype effects that could disturb the evaluation of these results.
结直肠癌（CRC）是一种在全球范围内普遍诊断出的疾病，具有显著的相关死亡率。单核苷酸多态性（SNP）变异已被确定与CRC风险相关。尽管SMAD7 SNPs与患CRC的风险相关，但其预后作用仍不清楚。我们进行了一项病例对照研究，以确定母亲对果蝇背腹轴决定基因抑制因子（SMAD）7 SNP rs4464148、rs4939827和rs12953717的基因型与CRC风险之间的关联。此外，我们通过Kaplan-Meier曲线和Cox回归评估生存率，回顾性评估这些SNP在CRC患者中是否具有预后意义。只有rs4939827变异的CT基因型显示与CRC风险相关，并且这三个SNP中的任何一个的基因型（CC、CT或TT）在总生存中均未显示具有预后意义。我们的研究未能显示某些SNP基因型与CRC风险之间的关联，这在两项荟萃分析中已有充分记录。此外，它表明这些SNP没有预后相关性。需要更多的研究来了解是否存在可能干扰这些结果评估的人群差异或单倍型效应。
