Methylenetetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Coronary Artery Disease

Hyperhomocysteinemia (HHcy) is one of the factors contributing to the pathogenesis of coronary artery disease (CAD). Besides nutritional deficiency disorders, genetic polymorphism predominantly related to point mutation in the gene coding for Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the metabolism methionine–homocysteine (Hcy) has been implicated in HHcy. PubMed survey related to MTHFR gene polymorphism in CAD retrieved 143 articles from which 20 were selected in which MTHFR gene polymorphism and Hcy were estimated. The selected studies had estimated either MTHFRC677T or A1298C or both. All the studies detected presence of MTHFRC677T in CAD. Hcy levels were found to range from normal to HHcy with debatable association to CAD.