title: The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD).
abstract: Mild hyperhomocysteinemia was found to be related to venous thrombosis, cerebrovascular and coronary artery disease (CAD). Some recent studies suggested that a mutation in the gene encoding for 5-10 methylenetetrahydrofolate reductase (MTHFR), due to a transition C-->T at nucleotide 677, is a genetic risk factor for vascular disease. However, several further studies could not confirm this association. We investigated 84 patients with CAD who underwent percutaneous transluminal coronary angioplasty (PTCA) and 106 healthy subjects. The prevalence of the mutated homozygous genotype was much higher than in other Italian populations, Europeans or other major human groups, but no excess of the Val/Val homozygotes was found in patients (28.5%) with respect to healthy subjects (30.2%). Mutated homozygous MTHFR genotype (+/+) was not found to be related to the clinical manifestations of CAD, to the prevalence of the common risk factors and to the rate of restenosis. In conclusion, thermolabile MTHFR does not appear to be associated "per se" with the risk for CAD or for restenosis after PTCA. The high frequency of the +/+ genotype in our Italian population (from Tuscany) confirms a wide macroheterogeneity and suggests a microheterogeneity in the genotype frequencies of the different ethnic populations.
authors.affiliation: Istituto di Clinica Medica Generale e Cardiologia, University of Florence, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Abbate
authors.forename: I
authors.initials: I
authors.lastname: Sardi
authors.forename: G
authors.initials: G
authors.lastname: Pepe
authors.forename: R
authors.initials: R
authors.lastname: Marcucci
authors.forename: T
authors.initials: T
authors.lastname: Brunelli
authors.forename: D
authors.initials: D
authors.lastname: Prisco
authors.forename: C
authors.initials: C
authors.lastname: Fatini
authors.forename: M
authors.initials: M
authors.lastname: Capanni
authors.forename: I
authors.initials: I
authors.lastname: Simonetti
authors.forename: G F
authors.initials: GF
authors.lastname: Gensini
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015906:Angioplasty, Balloon, Coronary; D015897:Comorbidity; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000453:epidemiology; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006358:Hot Temperature; D006801:Humans; D006949:Hyperlipidemias / Q000453:epidemiology; D006973:Hypertension / Q000453:epidemiology; D007558:Italy / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009765:Obesity / Q000453:epidemiology; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000737:chemistry / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011489:Protein Denaturation; D012008:Recurrence; D012307:Risk Factors; D012907:Smoking / Q000453:epidemiology
chemical_list: D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)