【摘要】 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。更多还原

【Abstract】 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 synthesis and methylation,leading to an increased oxidative stress and disturbed methylation reactions and consequently affecting reproductive function. This article presents an overview on MTHFR gene polymorphisms,proposing that multicentered,large-sample and longterm prospective studies are needed to reveal the relationship between MTHFR gene polymorphisms and infertility.更多还原