The Japanese Journal of Clinical Dialysis Vol.15 No.2(7)

Theme Homocysteinemia in Association with Chronic Renal Failure
Title Genetic polymorphism of methylenetetrahydrofolate reductase and atherosclerosis
Publish Date 1999/02
Author Hiroyuki Morita Department of Cardiovascular Medicine, Graduate School of Medicine, University of Tokyo
[ Summary ] Hyperhomocyst(e)inemia has been identified as an independent risk factor for athero sclerotic and thromboembotic diseases, such as coronary artery disease, cerebral artery disease and venous thrombosis. Recently, alanine/valine (A/V) gene polymorphism of 5, 10-methylenetetrahydrofolate reductase(MTHFR), one of the key enzymes that catalyze the remethylation of homocysteine, has been reported. In our study, the V allele of MTHFR was also shown to be commonin the Japanese population and was significantly associated with coronary artery disease and ischemic stroke in the Japanese elderly population. The VV genotype associated with a predisposition toward increased plasma homocyst(e)ine levels may represent a genetic risk factor for systemic atherosclerotic and/or thrombotic disease. The identification of the V allele of the MTHFR gene as a genetic risk factor for vascular diseases may give insight into its mechanism and provide a genetic marker to permit early therapeutic intervention in subjects at high risk for vascular diseases.
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