Summary
To elucidate the effects of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene mutation (Ala to Val) on the development of coronary artery disease (CAD) in familial hypercholesterolemia (FH), we studied 128 consecutive male heterozygous FH patients, 65 with CAD and 63 without CAD. The frequency of genotype W in the CAD group was 15% and in the non-CAD group was 11%. The mean ages of onset in the CAD group were 53-, 53-, and 42- years, for genotypes AA, AV, and W, respectively (p<.05); the age of onset of CAD in genotype W was significantly lower than in the other two genotypes. The oldest patients in the non-CAD group were 80-, 68-, and 48- years, for genotypes AA, AV, and W, respectively. In the stepwise multiple regression analysis, only MTHFR genotype W was shown to be an independent predictor of the early onset of CAD. The mean plasma Hcy level of genotype W was significantly higher than those of the other two genotypes. These results suggest that he MTHFR mutation may accelerates the onset of CAD through elevation of plasma Hcy levels in male heterozygous FH patients.
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© 2000 Springer-Verlag Tokyo
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Kawashiri, Ma. et al. (2000). Common Mutation of 5, 10-Methylenetetrahydrofolate Reductase Accelerates Coronary Artery Disease in Familial Hypercholesterolemia. In: Kita, T., Yokode, M. (eds) Lipoprotein Metabolism and Atherogenesis. Springer, Tokyo. https://doi.org/10.1007/978-4-431-68424-4_13
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DOI: https://doi.org/10.1007/978-4-431-68424-4_13
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