| Relationship between 5,10-methylenetetrahydrofolate reductase gene polymorphism and disease susceptibility |
| Received:May 13, 2019 Revised:August 27, 2019 Click here to download the full text |
| Citation of this paper:ZHOU Yan,PAN Bai-shen,GUO Wei.Relationship between 5,10-methylenetetrahydrofolate reductase gene polymorphism and disease susceptibility[J].Chinese Journal of Clinical Medicine,2020,27(1):121-126 |
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| Author Name | Affiliation | E-mail | | ZHOU Yan | Department of Laboatory Medicine, Zhongshan Hospital, Fudan Universty, Shanghai 200032, China | | | PAN Bai-shen | Department of Laboatory Medicine, Zhongshan Hospital, Fudan Universty, Shanghai 200032, China | | | GUO Wei | Department of Laboatory Medicine, Zhongshan Hospital, Fudan Universty, Shanghai 200032, China | guo.wei@zs-hospital.sh.cn |
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| Abstract:5,10-methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate and homocysteine metabolic pathways. MTHFR 677C>T and 1298A>C polymorphisms are associated with a variety of diseases, eg. MTHFR may accelerate the occurrence of atherosclerosis and thromboembolic events, and therefore may cause cardiovascular disease; it may affect the excretion of homocysteine, and therefore may cause hypercystinuria; it may reduce circulating folic acid levels and raise homocysteine levels, as well as increase neurotoxicity and vascular toxicity; it may affect the effective intake of folic acid in pregnant women and increase the risk of congenital neural tube defects. This article aims to review the association between MTHFR gene SNPs and disease occurrence, as well as research progress in pharmacogenomics. |
| keywords:folic acid-homocysteine metabolic pathway 5,10-methylenetetrahydrofolate reductase single nucleotide polymorphism susceptibility adverse reactions |
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