Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reductase and factor V genes.
The prevalence of the A20210 allele of the prothrombin (PT) gene and the T677 allele of the methylene tetrahydrofolate reductase (MTHFR) gene was determined in 205 patients with venous thromboembolism (VTE) and in 398 healthy subjects of similar age and sex distribution.
We also determined the frequency of these two candidate risk alleles in subjects carrying the factor V (FV) Q506 allele, to identify a possible interaction.
Forty patients (19.5%) and 14 control subjects (3.5%) were heterozygous for the FV R506Q mutation.
Twenty-one patients (10.2%) and 11 controls (2.8%) were heterozygous for the PT A20210 allele (odds ratio (OR) 4.02,95% confidence interval (CI) : 1.90-8.50, p<0.001).
This confirmed that the PT A20210 allele was a risk factor for VTE in our population.
Among the FV Q506 allele carriers, 9 patients (22.5%) and no control also had the PT gene G20210A mutation.
The absence of the combined abnormality in the control group made it impossible to calculate the relevant ORs but the lower bound of the 95% Cl was 3.94, suggesting that individuals bearing the two mutations have a higher risk than those with a single mutation.
Twenty-six patients (12.7%) and 49 controls (12.3%) were homozygous for the MTHFR T677 allele (OR 1.04,95% CI : 0.62-1.72, not significant).
Four patients and I control were also heterozygous for the FV R506Q mutation (OR 9.33,95% Cl : 1.03-84.23). (...)
Mots-clés Pascal : Thrombose, Veine, Thromboembolie, Facteur risque, Epidémiologie, Dihydrofolate reductase, Oxidoreductases, Enzyme, Prothrombine, Proaccélérine, Facteur coagulation, Gène, Mutation, France, Europe, Homme, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Veine pathologie
Mots-clés Pascal anglais : Thrombosis, Vein, Thromboembolism, Risk factor, Epidemiology, Dihydrofolate reductase, Oxidoreductases, Enzyme, Prothrombin, Factor V, Coagulation factor, Gene, Mutation, France, Europe, Human, Cardiovascular disease, Vascular disease, Venous disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0217844
Code Inist : 002B12B03. Création : 16/11/1999.