THE HIGH PREVALENCE OF THERMOLABILE 5-10-METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) IN ITALIANS IS NOT ASSOCIATED TO AN INCREASED RISK FORCORONARY-ARTERY DISEASE (CAD)
R. Abbate et al., THE HIGH PREVALENCE OF THERMOLABILE 5-10-METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) IN ITALIANS IS NOT ASSOCIATED TO AN INCREASED RISK FORCORONARY-ARTERY DISEASE (CAD), Thrombosis and haemostasis, 79(4), 1998, pp. 727-730
Mild hyperhomocysteinemia was found to be related to venous thrombosis
, cerebrovascular and coronary artery disease (CAD). Some recent studi
es suggested that a mutation in the gene encoding for 5-10 methylenete
trahydrofolate reductase (MTHFR), due to a transition C --> T at nucle
otide 677, is a genetic risk factor for vascular disease. However, sev
eral further studies could not confirm this association. We investigat
ed 84 patients with CAD who underwent percutaneous transluminal corona
ry angioplasty (PTCA) and 106 healthy subjects. The prevalence of the
mutated homozygous genotype was much higher than in other Italian popu
lations, Europeans or other major human groups, but no excess of the V
al/Val homozygotes was found in patients (28.5%) with respect to healt
hy subjects (30.2%). Mutated homozygous MTHFR genotype (+/+) was not f
ound to be related to the clinical manifestations of CAD, to the preva
lence of the common risk factors and to the rate of restenosis. In con
clusion, thermolabile MTHFR does not appear to be associated ''per se'
' with the risk for CAD or for restenosis after PTCA. The high frequen
cy of the +/+ genotype in our Italian population (from Tuscany) confir
ms a wide macroheterogeneity and suggests a microheterogeneity in the
genotype frequencies of the different ethnic populations.