The etiology of bladder cancer remains unclear. This study investigates the impact of gene polymorphisms, particularly methylenetetrahydrofolate reductase gene (MTHFR), on bladder cancer susceptibility, focusing on the rs1801133 single-nucleotide polymorphism (SNP). A meta-analysis was conducted after systematically reviewing the MTHFR gene literature, adhering to PRISMA guidelines and registering in PROSPERO (CRD42023423064). Seven studies were included, showing a significant association between the MTHFR C677T (rs1801133) polymorphism and bladder cancer susceptibility. Individuals with the T-allele or TT genotype had a higher likelihood of bladder cancer. In the Asian population, the overall analysis revealed an odds ratio (OR) of 1.15 (95% CI 1.03–1.30;p-value = 0.03) for T-allele versus C-allele and an OR of 1.34 (95% CI 1.04–1.72;p-value = 0.02) for TT genotype versus TC+CC genotype. The CC genotype, however, showed no significant association with bladder cancer. Notably, epigenetic findings displayed low sensitivity but high specificity, indicating reliable identified associations while potentially overlooking some epigenetic factors related to bladder cancer. In conclusion, the MTHFR T-allele and TT genotype were associated with increased bladder cancer risk in the Asian population. These insights into genetic factors influencing bladder cancer susceptibility could inform targeted prevention and treatment strategies. Further research is warranted to validate and expand these findings.
膀胱癌的病因尚不明确。本研究探讨基因多态性，特别是亚甲基四氢叶酸还原酶基因（MTHFR）对膀胱癌易感性的影响，重点关注rs1801133单核苷酸多态性（SNP）。在系统回顾MTHFR基因相关文献后，遵循PRISMA指南并在PROSPERO注册（CRD42023423064），进行了荟萃分析。共纳入七项研究，结果显示MTHFR C677T（rs1801133）多态性与膀胱癌易感性存在显著关联。携带T等位基因或TT基因型的个体患膀胱癌的风险更高。在亚洲人群中，总体分析显示T等位基因相对于C等位基因的比值比（OR）为1.15（95% CI 1.03–1.30；p值=0.03），TT基因型相对于TC+CC基因型的OR为1.34（95% CI 1.04–1.72；p值=0.02）。然而，CC基因型与膀胱癌无显著关联。值得注意的是，表观遗传学结果显示出低敏感性但高特异性，表明所识别的关联可靠，但可能忽略了与膀胱癌相关的一些表观遗传因素。总之，在亚洲人群中，MTHFR T等位基因和TT基因型与膀胱癌风险增加相关。这些关于影响膀胱癌易感性的遗传因素的见解，可为针对性预防和治疗策略提供参考。需要进一步研究以验证和扩展这些发现。
肿瘤(癌症)患者之家