The association between the Val34Leu mutation in the factor XIII gene and deep venous thrombosis in young people

• Published in: Revista española de investigaciones quirúrgicas Vol. 12; no. 1; pp. 5 - 8
• Main Authors: Severo, M, Alburquerque, R, Toledo, T, Araujo, F, Meireles, E, Mansilha, Armando
• Format: Journal Article
• Language: English
• Published: arké 144 2009
• Subjects: Factor XIII; Thrombophilia; Val34Leu mutation; Venous Thrombosis
• ISSN: 1139-8264

Background. A mutation in the coagulation FXIII has been described: a G to T transition in exon 2 of the FXIII A-subunit
gene, which results in the substitution of Leucine for Valine at amino acid position 34 (FXIII Val34Leu). The higher level of
activity of the Leu34 enzyme would be expected to be associated with increased resistance of the fibrin clot to plasmin degradation.
Evidence is conflicting regarding the association of FXIII Val34Leu polymorphism with risk of venous thrombosis. The
aim of this study was to evaluate the association of the Val34Leu mutation in the Factor XIII gene with deep venous thrombosis
(DVT) in young people.
Methods. The prevalence of the FXIII Val34Leu mutation was investigated in a population of 50 consecutive and unrelated
patients with an objectively documented first episode of DVT under 40 years old and in a random control group of 45 healthy
subjects, using DNA analysis.
Results. The distribution of genotypes amongst patients was 64% Val/Val, 36% Val/Leu and 0% Leu/Leu, corresponding to a
frequency of 18% for the Leu allele. In the control group the results were respectively 48.9%, 46.7% and 4.4%, corresponding
to a frequency of 27.8% for the Leu allele (p= 0.150). The odds ratio (OR) was 0.54 (95% CI: 0.24-1.22 ).
Conclusion. Data from this study suggests that the Val34Leu polymorphism offers a protective effect against a first episode of
deep venous thrombosis in young people.