Faktor XIII V34L

Background

In the final step of the clotting cascade, coagulation factor XIII is activated by thrombin-catalyzed cleavage of its activation peptide. Active Factor XIII generates covalent cross-linking of fibrin strands and conversion of soluble fibrin molecules into a stable insoluble clot. Factor XIII also participates in other physiologic processes, including clot retraction, cell migration, and wound healing.
The gene for factor XIII (gene symbol F13) carries a common Val34Leu polymorphism, causing a change in amino acid structure of the polypeptide close to the thrombin cleavage site. The 34L variant has been associated with a reduced risk for venous thrombosis, coronary artery disease and stroke in several studies.

Factor XIII (F13 V34L) genotypes

Genotype	Frequency	Commentary
F13 VV	53%	Wild type genotype.
F13 VL	39%	Heterozygous for F13 34L. Modestlv reduced risk for venous thrombosis or coronary artery disease.
F13  LL	8%	Homozygous for F13 34L. The risk for venous thrombosis or coronary artery disease is about 30% lower compared to the wild type genotype.

Indications for testing

Estimation of individual risk for venous thrombosis or coronary artery disease.

Specimen Shipping

Literature:

Renner W, Köppel H, Hoffmann C, Schallmoser K, Stanger O, Toplak H, Wascher TC, Pilger E. Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thromb Res. 2000;99:35-9.
Renner W, Brodmann M, Pabst E, Stanger O, Wascher TC, Pilger E. The V34L polymorphism of factor XIII and peripheral arterial disease. Int Angiol. 2002;21:53-7.
Weger M, Renner W, Stanger O, Schmut O, Deutschmann H, Wascher TC, Haas A. Role of factor XIII Val34Leu polymorphism in retinal artery occlusion. Stroke. 2001;32:2759-61.