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OMIM: #613225
Gen: F13A1
Locus: 6p24.2-p23

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.



References:
  • Renner W et al. 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.

  • Wells PS et al. Factor XIII Val34Leu variant is protective against venous thromboembolism: a HuGE review and meta-analysis. Am J Epidemiol. 2006;164:101-9.

  • Vokó Z, Bereczky Z, Katona E, Adány R, Muszbek L.Factor XIII Val34Leu variant protects against coronary artery disease. A meta-analysis. Thromb Haemost. 2007;97:458-63.