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- Title
Tissue Factor Pathway Inhibitor (TFPI): Biochemistry, Genetics, and Implications for Thrombophilia.
- Authors
Brinkmann, T.; Schmidt, M.; Prohaska, W.; Kleesiek, K.
- Abstract
Tissue factor pathway inhibitor (TFPI) is the central inhibitor of the tissue factor induced extrinsic pathway of coagulation. It is a multivalent, serine proteinase inhibitor consisting of three repetitive tandem Kunitz-type domains. TFPI inhibits factor Xa directly and factor Vila/tissue factor via a quaternary complex. The main site of synthesis is, in contrast to other coagulation inhibitors, the vascular endothelium. Due to the central role of TFPI in the extrinsic pathway and its vital function in coagulation inhibition, no clearly defined deficiencies for this inhibitor have been found, which would predispose for thrombosis. However, the first polymorphism in the human TFPI gene (C536T) has now been detected, which leads to an amino acid exchange at residue 151 of the mature protein. This [P151L]TFPI mutant was found with a low prevalence of 0.2% in the German population. Statistical analysis showed a significantly increased relative risk for venous thrombosis in heterozygous carriers of the trait, so that this mutation may evolve as a new risk factor of thrombosis.
- Publication
Journal of Laboratory Medicine / Laboratoriums Medizin, 2001, Vol 25, Issue 7/8, p269
- ISSN
0342-3026
- Publication type
Article