Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia.
The presence of the 20210A allele of the prothrombin (PT) gene has recently been shown to be a risk factor for venous thromboembolism.
This is probably mediated through increased plasma prothrombin levels.
The aim of this study was to compare the prevalence of the prothrombin 20210A allele in control subjects and in subjects with recognised thrombophilia and to establish whether the additional inheritance of the PT 20210A allele is associated with an increased risk of venous thromboembolism. 101 subjects with a history of venous thromboembolism and diagnosed as having either factor V Leiden (R506Q) or heritable deficiencies of protein C, protein S or antithrombin were studied.
The prevalence of the PT 20210A allele in this group was compared with the results obtained for 150 control subjects.
In addition, the relationships were examined between genetic status and the number of documented thromboembolic episodes, and between plasma prothrombin levels and possession of the PT 20210A allele. 8 (7.9%) of the 101 patients were also heterozygous for the PT 20210A allele.
This compares with 0.7% in the control subjects (p=0.005).
After exclusion of patients on warfarin, the mean plasma prothrombin of 113 subjects without 20210A was 1.09 U/ml, as compared with 1.32 U/ml in 8 with the allele (p=0.0002). (...)
Mots-clés Pascal : Thrombose, Facteur risque, Epidémiologie, Déficit, Protéine C, Antithrombine, Facteur V Leiden, Hypercoagulabilité, Hérédité, Prothrombine, Facteur coagulation, Gène, Allèle, Royaume Uni, Europe, Prévalence, Homme, Anticoagulant, Endogène, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Génétique, Hémopathie, Coagulopathie, Maladie héréditaire, Protéine S
Mots-clés Pascal anglais : Thrombosis, Risk factor, Epidemiology, Deficiency, Protein C, Antithrombin, Factor V Leiden, Hypercoagulability, Inheritance(genetics), Prothrombin, Coagulation factor, Gene, Allele, United Kingdom, Europe, Prevalence, Human, Anticoagulant, Endogenous, Cardiovascular disease, Vascular disease, Genetics, Hemopathy, Coagulopathy, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0055907
Code Inist : 002B12B03. Création : 14/05/1998.