Failure to validate association of gene polymorphisms in EPCR, PAR-1, FSAP and protein S Tokushima with venous thromboembolism among Californians of European ancestry

Thrombophilia often refers to the increased risk of thrombosis due to a genetic cause, and many genetic variations appear to be associated with venous thromboembolism (VTE). In general, genetic linkage studies may or may not reflect a causative factor and may relate to only a small risk. Moreover, linkage studies require independent replication for widespread acceptance. To date, the factor V R506Q (Leiden) (1, 2) and prothrombin 20210A (3) variants are the most widely validated genetic variants linked with VTE. Using the Scripps Venous Thrombosis Registry (4), we sought to replicate several reported genetic variations in genes encoding endothelial protein C receptor (EPCR), protease activated receptor-1 (PAR-1), factor VII activating protease (FSAP) and protein S (5–10).