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

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