To clarify the effect of the A1298C variant of methylenetetrahydrofolate reductase (MTHFR) gene on the risk of acute lymphoblastic leukemia (ALL), an updated meta-analysis was performed. Electronic literature search was carried out in PubMed to collect relevant articles. Pooled odds ratios (OR) and stratification analysis were achieved under different genetic comparison models, age and ethnicity. A total of 46 articles including 7020 cases and 12,114 controls were enrolled. Overall, no significant association was observed for the MTHFR A1298C variant on the risk of ALL in any genetic model test, when all the studies pooled together (OR ~ 1 0.91; p > 0.05). In subgroup analyses stratified by age and ethnicity, the MTHFR A1298C reduce the risk of ALL in adult under allele contrast (OR = 0.88; [0.72; 1.09], p = 0.23) mainly in Caucasian populations. The present meta-analysis provides evidence that the A1298C variant of MTHFR gene is unlikely to be a major risk gene for childhood ALL.

为阐明亚甲基四氢叶酸还原酶 ( MTHFR ) 基因A1298C 变体对急性淋巴细胞白血病 (ALL) 风险的影响，进行了更新的荟萃分析。在PubMed中进行电子文献检索，收集相关文章。在不同的遗传比较模型、年龄和种族下实现了合并比值比 (OR) 和分层分析。共纳入 46 篇文章，包括 7020 篇案例和 12,114 篇对照文章。总体而言，当所有研究汇集在一起​​时，在任何遗传模型测试中均未观察到MTHFR A1298C 变体与 ALL 风险的显着关联 (OR ~ 1 0.91; p  > 0.05)。在按年龄和种族分层的亚组分析中，MTHFRA1298C 在等位基因对比下降低成人 ALL 的风险（OR = 0.88；[0.72；1.09]，p  = 0.23），主要在高加索人群中。本荟萃分析提供的证据表明，MTHFR基因的 A1298C 变体不太可能是儿童 ALL 的主要风险基因。