Sharon L. R. Kardia

Analysis of Whole Genome Sequence and Hemostasis Phenotypes

Research Project Description

Fibrinogen, coagulation factor VII and factor VIII, von Willebrand factor, D-dimer, tissue plasminogen activator, and plasminogen activator inhibitor are clinically relevant phenotypes related to thrombosis and hemostasis. In order to expand our knowledge of the genetic factors contributing to the plasma levels of these hemostasis phenotypes, we propose to use whole genome sequence data from 10 population-based studies (n=37,036 individuals) and imputed genotypes from 26 studies (n=135,433 individuals) to facilitate new genomic discovery for these measured traits and to determine how genetic variation influencing these traits affects susceptibility to clinical outcomes such as venous thromboembolism and cardiovascular events. Results from this study may contribute to the evidence base that will one day be used to deliver precision medicine in clinical settings.

National Heart, Lung, And Blood Institute
(subcontract: 1 R01 HL 139553 01)

Funding Period: 2/5/2018 to 1/31/2021