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The Role of Factor XIII Val34Leu Polymorphism in Thrombofic Disease. Die Rolle des Faktor XIII Val34Leu Polymorphismus bei thrombotischen Erkrankungen

The Role of Factor XIII Val34Leu Polymorphism in Thrombofic Disease. Die Rolle des Faktor XIII... Hämostaseologie Redaktion: C. M. Schambeck The Role of Factor XIII Val34Leu Polymorphism in Thrombotic Disease Die Rolle des Faktor XIII Val34Leu Polymorphismus bei thrombotischen Erkrankungen Silke Ehrenforth 1 , M. von Depka2 Summary: Activated blood coagulation factor (F) XIII (FXIIIa), a transglutaminase comprised of two A and two B subunits in a tetrameric structure (A2B2) of 320 kd, has a central role in the haemostatic system by cross-linking fibrin monomers in the final step of blood coagulation, thus stabilizing the fibrin clot and increasing its resistance to fibrinolysis. In addition, FXIIIa is implicated in the cross-linking of several other proteins, such as a-2-antiplasmin, fibronectin, and collagen. The impact of genetic variations of FXIII in thrombotic disorders has not been studied until recently, when a common polymorphism was described as a new candidate genetic factor influencing the risk of thrombotic diseases. This polymorphism results from a G to T transition in codon 34 of exon 2 of the catalytic FXIII A-subunit gene, leading to the substitution of leucine for valine (FXHIVal34Leu) close to the thrombin activation site. Genotype at this polymorphism is closely related to FXIII fibrin cross-linking activity, and FXIIILeu is associated with increased thrombin activation of FXIII http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Laboratoriums Medizin / Journal of Laboratory Medicine de Gruyter

The Role of Factor XIII Val34Leu Polymorphism in Thrombofic Disease. Die Rolle des Faktor XIII Val34Leu Polymorphismus bei thrombotischen Erkrankungen

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References (39)

Publisher
de Gruyter
Copyright
Copyright © 2009 Walter de Gruyter
ISSN
0342-3026
eISSN
1439-0477
DOI
10.1515/labm.2001.25.7-8.254
Publisher site
See Article on Publisher Site

Abstract

Hämostaseologie Redaktion: C. M. Schambeck The Role of Factor XIII Val34Leu Polymorphism in Thrombotic Disease Die Rolle des Faktor XIII Val34Leu Polymorphismus bei thrombotischen Erkrankungen Silke Ehrenforth 1 , M. von Depka2 Summary: Activated blood coagulation factor (F) XIII (FXIIIa), a transglutaminase comprised of two A and two B subunits in a tetrameric structure (A2B2) of 320 kd, has a central role in the haemostatic system by cross-linking fibrin monomers in the final step of blood coagulation, thus stabilizing the fibrin clot and increasing its resistance to fibrinolysis. In addition, FXIIIa is implicated in the cross-linking of several other proteins, such as a-2-antiplasmin, fibronectin, and collagen. The impact of genetic variations of FXIII in thrombotic disorders has not been studied until recently, when a common polymorphism was described as a new candidate genetic factor influencing the risk of thrombotic diseases. This polymorphism results from a G to T transition in codon 34 of exon 2 of the catalytic FXIII A-subunit gene, leading to the substitution of leucine for valine (FXHIVal34Leu) close to the thrombin activation site. Genotype at this polymorphism is closely related to FXIII fibrin cross-linking activity, and FXIIILeu is associated with increased thrombin activation of FXIII

Journal

Laboratoriums Medizin / Journal of Laboratory Medicinede Gruyter

Published: Jan 1, 2001

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