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Modifier genes for disorders of thrombosis and hemostasis
Abstract number: SA-TU-008
Westrick1 R.J., Ginsburg2 D.
11Department of Human Genetics, University of Michigan, 5214 LSI Building, 210 Washtenaw Avenue, Ann Arbor, MI 48109, USA, E-mail: westricr(umich.edu 22Departments of Internal Medicine and Human Genetics, Howard Hughes Medical Institute, University of Michigan, 5428 Life Sciences Institute, 210 Washtenaw Avenue, Ann Arbor MI 48109, USA. E-mail: ginsburg(umich.edu
How-to-cite Westrick RJ, Ginsburg D. Modifier genes for disorders of thrombosis and hemostasis. Journal of Thrombosis and Haemostasis 2009; Volume 7, Supplement 2: Abstract SA-TU-008
Most inherited hemostatic disorders exhibit incomplete penetrance and variable expressivity, which can be due to genetic or environmental interactions. This wide phenotypic variability for a given disease can be partly explained by modifier gene interactions. Modifier gene interactions have been described for VWD, TTP and venous thrombosis associated with the factor V Leiden mutation. We have exploited advances in mouse genetics in an effort to identify novel genetic loci that may serve as candidate genetic modifiers for bleeding and thrombosis in humans. We have identified several loci affecting plasma VWF levels and have identified and characterized mouse models of ADAMTS13 deficiency and Factor V Leiden that could be useful for identifying novel genes contributing to thrombosis risk in humans.
To cite this abstract use the following format:
Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
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