oa Molecular Diagnosis and Vaccines - Methylene tetrahydrofolate reductase gene (C677T) polymorphism, folic acid, vitamin B12 and homocysteine in coronary heart disease



Hyperhomocysteinemia, is a risk factor for occlusive arterial disease. It may be caused by disruptions of homocysteine metabolism. The C677T mutation in methylenetetrahydrofolate reductase (MTHFR) gene may contribute to elevated plasma homocysteine and is probably one of the atherosclerotic risk factors. This work was carried out to investigate the relationship between the MTHFR C677T mutation, plasma homocysteine concentration and the risk of coronary artery disease (CAD) in 48 angiographically confirmed CAD male patients. Control group comprised 20 age-matched healthy subjects. The MTHFR gene mutation was detected by PCR and restriction digestion. Plasma homocysteine, Folic acid and vitamin B12 were assayed by a chemiluminescence method. The incidence of the mutated T allele and genotype CT was similar in patients and controls (0.156 vs 0.125, and 31.25% vs 25% respectively, p = 0.6). No TT homozygotes were detected. Homocysteine was significantly higher and folic acid signicantly lower in patients than controls (p = 0.0004 and <0.0001 respectively). Although CT heterozygotes had significantly higher homocysteine concentration than homozygous CC subjects in both patients and controls (p<0.0001), the odds ratio for CAD in genotype CT was 1.3 (p = 0.6, NS). The odds ratio for CAD in subjects with hyperhomocysteinemia was 7.6 (p = 0.01). After multivariate analysis, hyperhomocysteinemia remained an independent risk factor of CAD (OR 5.7, p = 0.04). in conclusion, hyperhomocysteinemia rather than the C677T mutation in the MTHFR gene, is an independent risk factor of coronary artery disease.


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