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.