Background The methylenetetrahydrofolate reductase (MTHFR) rs1801131 A/C variant results in a decrease in MTHFR enzymatic activity, which may play an important role in folate metabolism and is also an important source of DNA methylation and DNA synthesis. Several case-control studies have been conducted to assess the association of MTHFR rs1801131 polymorphism with the risk of urinary cancers, yet with conflicting conclusions. To derive a more precise estimation of above relationship, the association between the MTHFR rs1801131 A/C polymorphism and the risk of urinary cancer was performed. Methods A total of 28 case-control studies was identified. The odds ratios (OR) with 95% confidence intervals (CI) was calculated to assess. Results On one hand, we found that the MTHFR rs1801131 A/C polymorphism was associated with increased whole urinary cancers’ risk (for example CA vs. AA: OR = 1.12. 95%CI = 1.01–1.24). On the other hand, we found that the MTHFR rs1801131 A/C polymorphism might increase bladder cancer risk both in Asian (C-allele vs. A-allele: OR = 1.35. 95%CI = 1.15–1.60) and African populations (CA vs. AA: OR = 1.63. 95%CI = 1.17–2.25). Conclusions Our current analysis suggested that MTHFR rs1801131 A/C is associated with urinary cancers, especially bladder cancer.

中文翻译：

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亚甲基四氢叶酸还原酶基因rs1801131 A/C多态性与泌尿系肿瘤易感性的相关性

背景 亚甲基四氢叶酸还原酶 (MTHFR) rs1801131 A/C 变体导致 MTHFR 酶活性降低，这可能在叶酸代谢中起重要作用，也是 DNA 甲基化和 DNA 合成的重要来源。已经进行了几项病例对照研究来评估 MTHFR rs1801131 多态性与泌尿系癌症风险的关联，但得出的结论相互矛盾。为了更精确地估计上述关系，进行了 MTHFR rs1801131 A/C 多态性与泌尿癌风险之间的关联。方法共纳入28项病例对照研究。计算具有 95% 置信区间 (CI) 的优势比 (OR) 以进行评估。结果一方面，我们发现 MTHFR rs1801131 A/C 多态性与全尿路癌风险增加相关（例如 CA 与 AA：OR = 1.12。95%CI = 1.01–1.24）。另一方面，我们发现 MTHFR rs1801131 A/C 多态性可能会增加亚洲（C 等位基因与 A 等位基因：OR = 1.35。95%CI = 1.15–1.60）和非洲人群（CA与 AA：OR = 1.63。95% CI = 1.17–2.25）。结论我们目前的分析表明，MTHFR rs1801131 A/C 与泌尿系癌症，尤其是膀胱癌有关。