Approved research

Genome-wide association and interaction studies of venous thromboembolism

Lay summary

The proposed research aims to identify novel genetic risk factors for venous thromboembolism (VTE), a common and potentially fatal disease of blood clotting, and to study the interaction between genetic factors and several established environmental risk factors for VTE. As many as one million individuals are affected by VTE each year in the US and Europe and annual VTE-related deaths are estimated at 370,000 (Europe). Given the high prevalence and disease severity, more research on the causes, prevention, and treatment of VTE is urgently needed. The proposed research will ?improve the prevention, diagnosis and treatment of illness and the promotion of health throughout society? by providing insight into the basic pathophysiology of VTE, improve our ability to assess the risk of developing venous blood clots and help us design strategies to prevent VTE in the general population. This research aims to identify inherited genetic differences that alter the risk of developing a condition called venous thromboembolism (VTE). With VTE, a blood clot develops in a large vein (usually in the leg) and can travel to the lung causing difficulty breathing and stress on the heart. We will compare the genomes of individuals with VTE to individuals without VTE. We will also study non-genetic risk factors for VTE such as smoking and obesity to learn how genetics and the environment interact to affect VTE risk. We request data from all individuals in the cohort in order to identify matched controls to the VTE cases in the UK Biobank. For each case (N~4,000), we will identify four controls matched on sex, age at DNA collection and previous cancer (yes/no).