The Genetic Component of Disorders of Coagulation and Thrombosis

Correspondence: Dr. J.M. Soria. Unitat de Genomica de Malalties Complexes. Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau. Sant Antoni Maria Claret, 167. 08025 Barcelona. Spain. E-mail: jsoria@santpau.cat Thrombosis plays a crucial role in the pathogenesis of acute myocardial infarction, stroke and venous thrombosis, and is the principle factor responsible for a subsequent fatal outcome. These conditions, each of which has an annual incidence of 1 to 3 per 1000 adults, are some the principle causes of morbidity and mortality in developed countries. Consequently, considerable financial and health-care resources are being devoted to their diagnosis, treatment and prevention. Thrombosis is a good example of a complex disease, in which each individual’s susceptibility to the disease is determined by the actions of numerous genes and their interactions with environmental factors. It has been established that genetic variations in the genes that code for coagulation factors or inhibitors are important risk factors for thromboembolism. However, 50% of patients with inherited thrombophilia do not have any of these genetic variations. Consequently, the major challenge today is to identify new genetic risk factors for thrombosis.