Biological and clinical implications of the MTHFR C677T polymorphism (original) (raw)

The MTHFR C677T polymorphism, a prevalent genetic variant, significantly impacts metabolic pathways involving homocysteine and folate metabolism. This review encompasses the biochemical implications of the polymorphism, explores its associations with various health conditions including cardiovascular diseases and pregnancy complications, and discusses its potential consequences on therapeutic interventions. While a high tHcy concentration correlates with the TT genotype, the clinical risks associated with this polymorphism, particularly regarding cardiovascular disease, appear less significant than previously believed.