New approaches and future prospects for evaluating genetic risk of thrombosis

Hospital de la Santa Creu i Sant Pau, Sant Antoni Maria Claret 167, Barcelona 08025, Spain. jsoria@hsp.santpau.es

Studies of the genetics of common complex human diseases have progressed enormously over the past decade with the development of powerful molecular and analytical methodologies. For example, the understanding of thrombosis, which is a complex disease under strong genetic and environmental control, has been greatly advanced using the principles and practices of these methodologies. This is important because thrombosis has a high social and economic cost in western countries. Thus, identification and characterization of specific loci and genes, and the associated phenotypes involved in thrombotic risk will contribute to a greater understanding of the pathogenesis of this disease and will, ultimately, lead to the development of better diagnostic, prevention and treatment strategies. Past efforts to identify thrombosis-related genes have utilized population-based association methods, but substantial progress has been made recently with the strategy of using positional cloning of genes based on linkage studies. These methods focus on measuring quantitative traits that are correlated with the risk of disease. In this article, we review the current status and future prospects of mapping and identification of genes for thrombosis, with a focus on some promising chromosomal regions containing these genes. We include a discussion of the exciting prospects of identifying genes that are involved in complex diseases.