Genetics of atherothrombosis and thrombophilia

Thrombosis in the arterial or venous vascular systems is preceded by a complex interplay between environmental and genetic factors, and it is the underlying cause of several common complex diseases. The genome-wide association approach has proved successful in identifying loci associated with cardiovascular disease and related risk factors. However, much work remains to define the culprit genes and causal variants as well as the mechanisms whereby they influence disease development and progression. In-depth studies of previously identified disease-associated loci are expected to improve our understanding of the pathophysiology of cardiovascular disease and identify novel targets for treatment. Here, we review the advances made in the past year in the field of atherothrombosis and thrombophilia, with the focus placed on results emerging from genome-wide association studies on coronary artery disease, ischemic stroke, venous thromboembolism, and intermediate traits associated with these disease entities.