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

作　　者：郭凯敏[1] 田润辉[2] 王洪亮[1] 

机构地区：[1]吉林大学第一医院男科,吉林长春130021 [2]吉林大学第一医院心理科,吉林长春130021

出　　处：《中华男科学杂志》2016年第2期171-174,共4页National Journal of Andrology

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。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.

关 键 词：亚甲基四氢叶酸还原酶 自然流产 不育 基因多态性 

分 类 号：R698.2[医药卫生—泌尿科学] R714.2[医药卫生—外科学]