肿瘤的高发病率及高致死率严重威胁着人类的健康与寿命。 一碳代谢是肿瘤发病机制的重要代谢通路之一,通路 中的两个重要因子———叶酸和同型半胱氨酸的相关研究备受关注。 同时,一碳代谢通路中的多个功能性基因多态性也影响 携带者对肿瘤的易感性,但这种关系往往会受到营养素水平等混杂因子的修饰。 此外,一碳代谢通路中一些功能性的基因多 态性还影响着携带者对化疗药物的敏感性与不良反应,这可能为临床化疗药物个体化的选择与剂量设定提供依据。 这些功 能性的基因多态性,还具有作为肿瘤患者预后预测因子的潜在价值。 本文从这几个方面的研究进行了综述,在倡导“精准医 学与个体化诊疗”的当下,一碳代谢通路中的功能性基因多态性研究在个体化的肿瘤预防与临床治疗上,具有重大的科学意 义和潜在价值。

The high incidence and mortality of cancer threaten human health and lifespan. One-carbon metabolism is one of the important metabolic pathways involved in tumor pathogenesis. The effects of folate and homocysteine two key components of the one-carbon metabolism pathway have attracted the attentions of a large number of studies. Meanwhile multiple functional gene polymorphisms in the one-carbon metabolism pathway also play roles in carriers' susceptibility to cancers but this relationship is often modified by many confounders including nutrients in the one-carbon metabolism pathway. In addition other studies proved these gene polymorphisms are determinants of the sensitivity and toxicity to chemotherapy drugs thus genotype information may provide a basis for the selection and dose setting of clinical chemotherapy drugs. Some studies have found that these functional gene polymorphisms have potential value as prognostic predictors of cancer patients. In this review the research on these aspects is summarized. Nowadays "precision medicine and personalized treatment" has become an important trend in medical development studies on functional gene polymorphism in the one-carbon metabolism pathway may provide an opportunity with great scientific significance and potential value in individualized tumor prevention and clinical treatment.