ROLE OF GENETIC MODIFIERS IN BLEEDING DISORDERS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Differences in expression of the integrin alpha2 beta1 and glycoprotein lb-1X-V complex on the platelet membrane influence the clinical presentation of von Willebrand disease and other bleeding disorders caused by impaired platelet adhesion to the subendothelium. Over the last 4 years several hundred individuals with von Willebrand disease have been recruited as well as their relatives through a previous protocol in the GCRC, #0214. The main goal of this study is to complete the recruitment of unrelated controls. Case/control studies will represent the gold standard of association studies and the availability of unrelated controls is essential for their completion.