GRIMAHF · Genetic regulation of inflammation-mediated activation of haemostasis: a family-based approach

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Project objective

Thrombosis is due to a combination of genetic and environmental factors. Activation of haemostasis, that constitutes the basis of thrombus formation, is the final step of a cascade of events in which genetic alterations can be determinant. Increase in inflammatory mediators has been implicated as a triggering factor.Strategies focusing on the genetic analysis of measurable quantitative traits (QTL) that are correlated with disease risk are highly justified as compared to the previous emphasis on the analysis of the much less informative dichotomous disease traits. Because of their closer proximity to direct gene action, disease-related quantitative phenotypes represent one of the best chances to identify the underlying QTL that influence disease susceptibility.It represents one of the more comprehensive approaches and provides important methodological challenges for its implementation both with regard to the genome scanning and the statistical and computational efforts that are required in order to adequately analyze the data produced. This approach works best when data can be collected on extended families. Unfortunately, family-based designs are still relatively rare in thrombosis/haemostasis studies.The present project is aimed at identifying genes involved in the pathway: inflammation<->haemostasis->thrombus formation->myocardial infarction (MI). Data will come from large pedigrees selected from the general healthy population and through probands with MI before the age of 45, with at least another affected first degree relative with CVD before 65 years of age.The project will profit of the combination of the broad experience of the host group in the field of genetic epidemiology, haemostasis, inflammation and cardiovascular risk factors with the experience of the applicant, who has been involved for several years in his country of origin in an international MedPed Familial Hypercholesterolemia Project dealing with families.

Original text from CORDIS.

Participants

• CATHOLIC UNIVERSITY, CENTRE FOR HIGH TECHNOLIGY RESEARCH AND EDUCATION IN BIOMEDICAL SCIENCESCoordinatorCity levelItaly

Links

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