MTHFR基因多态性与不孕不育关系的研究进展

Relationship of MTHFR gene polymorphisms with infertility

叶酸代谢途径在参与核苷酸合成代谢、DNA修复和甲基化以及维护基因组稳定性中发挥重要作用。亚甲基四氢叶酸还原酶(MTHFR)是一种重要的调控酶,参与叶酸代谢。它的多态性可能影响血液中同型半胱氨酸浓度,从而导致氧化应激增加,影响甲基化反应,进而影响DNA合成和甲基化,对生殖功能造成损害。本文对该基因多态性与不孕不育的关系进行综述,并认为有必要进行多中心、大样本的人群调查,以及前瞻性研究来揭示两者之间的确切关系。

The folate metabolic pathway plays important roles in cellular physiology by participating in nucleotide synthesis, DNA repair and methylation, and maintenance and stability of the genome. Methylenetetrahydrofolate reductase （MTHFR） is a key regulatory enzyme involved in folate metabolism. Polymorphisms of MTHFR may change the level of homocysteine and affect DNA syn- thesis and methylation, leading to an increased oxidative stress and disturbed methylation reactions and consequently affecting reproduc- tive function. This article presents an overview on MTHFR gene polymorphisms, proposing that muhicentered, large-sample and long- term prospective studies are needed to reveal the relationship between MTHFR gene polymorphisms and infertility.