ANALYSIS OF INHERITED THROMBOPHILIA. THE CONTRIBUTION OF GENETIC FACTORS IN PREDISPOSITION TO VENOUS THROMBOEMBOLISM IN THE SPANISH POPULATION.Author:
TIRADO GARCÍA M. ISABEL.
Year: 2004.
University:
BARCELONA.
Place of defense: FACULTAD DE MEDICINA.
Place of preparation: FACULTAD DE FARMACIA/UNIVERSIDAD DE BARCELONA.
Summary: The thrombophilia is a multifactorial disease and complex in which multiple genes interact with each other and with environmental factors. The main objective of this thesis is the analysis of genetic factors thromboembolic risk (TV) in the Spanish population. This analyze multiple genetic risk factors through 3 studies: genetic linkage analysis in families with idiopathic thrombophilia (GAIT project, AnálisisGenéticode the unexplained thrombophilia), in association analysis of a study Caso-Control of Spanish population, analysis of association with families thrombophilia with known defects in hemostasis. Our results showed the RPCa is a risk factor independent of the mutation Factor V Leiden (FVL). Secondly polymorphism PT20210A in the prothrombin gene (PT), is a functional polymorphism influencing levels of the PT and on TV. The association FVL increases the risk of thrombosis in households with television and weaknesses AT, PCo PS.y association PT20210A increases the risk TV families deficient AT, PS, FVLy no increased risk in families with pc . Moreover homocigosis (T (f) for the polymorphism C46T is a new risk factor in Spanish public television, for which we have developed a fast and easy way with a termociclador in real time. Elevated levels of FVIII and groups blood system ASO type no-O, probably the allele Al, are independent risk factors for TV in Spanish population. Concluding the combination of linkage analysis, along with the case-control association study provides a very powerful system for identifying DNA variants that contribute to the susceptibility of thromboembolic disease.
