Polymorphisms of platelet membrane glycoprotein Ibα associated with arterial thrombotic disease

Platelet membrane glycoprotein Ib alpha (GPIb alpha) is a major receptor for von Willebrand factor and thrombin, which plays a key role in the initial development of thrombi, Two polymorphisms (HPA-2 and VNTR) that affect phenotype have been described in GPIb alpha. The relevance of these polymorphisms to thrombotic disease was investigated by genotypic identification in three case-control studies: 104 case patients with acute cerebrovascular disease (CVD), 101 case patients with acute coronary heart disease (CHD), 95 patients with deep venous thrombosis (DVT), and one control age-, sex-, and race-matched for each case patient. Results show that the C/B genotype of the VNTR and the HPA-Pb polymorphisms of GPIb alpha are strongly associated with increased risk of coronary heart disease and cerebral vascular disease but not with deep vein thrombosis. These two polymorphisms of GPIb alpha may represent newly identified risk factors for arterial thrombotic disease, but not for venous thrombosis. (C) 1998 by The American Society of Hematology.