Abstract Number: PB2191
Meeting: ISTH 2020 Congress
Background: Risk of pulmonary embolism (PE) development in patients with venous thromboembolism (VTE) could depend on fibrin clot structure and the rate of thrombus lysis. Factor XIII A-subunit (FXIII-A) Val34Leu polymorphism modifies kinetics of fibrin monomer crosslinking and affects stabilization of fibrin clot. Allele -675 4G of plasminogen activator inhibitor type 1 (PAI-1) gene is associated with decrease of fibrinolytic capacity.
Aims: To assess effect of the FXIII-A (Val34Leu) and PAI-1 (-675 4G/5G) polymorphisms on the risk of PE development in young VTE patients.
Methods: We included 250 young patients with VTE (123 men and 127 women, mean age 37.4±10.9 years) in the study. Isolated deep-vein thrombosis was diagnosed in 158 (63.2%) patients (“DVT only” group), whereas the signs of PE (DVT complicated by PE or isolated PE) were detected in 92 (36.8%) persons. Genotyping for the FXIII-A Val34Leu and PAI-1 -675 4G/5G polymorphisms was performed by PCR-RFLP. Odds ratios (OR) and p-values were determined by Fisher’s exact test to characterize intergroup differences in distributions of genotypes and their combinations.
Results: Genotypes distributions of the FXIII-A and PAI-1 polymorphisms were similar in patients with isolated DVT and those with PE. Simultaneous presence of the PAI-1 4G/4G and FXIII-A 34 Val/Val variants was more frequently seen in PE patients (60.0% vs. 34.5% in “DVT only” group, OR=2.8; p=0.018). At the same time, presence of the FXIII-A 34Leu variant in patients with PAI-1 4G/4G genotype was associated with decrease of PE risk. The frequency of this combination was higher in “DVT only” group when compared to patients with PE (58.2% vs. 34.2%, respectively, OR=2.7; p=0.028).
Conclusions: Simultaneous presence of PAI-1 4G/4G and FXIII-A 34 Val/Val genotypes is associated with thromboembolic complications in young VTE patients. In turn, presence of FXIII-A 34Leu variant could have protective effect on PE risk in patients with PAI-1 4G/4G genotype.
To cite this abstract in AMA style:Chechulova A, Kapustin S, Soldatenkov V, Svitina S, Tomchenko A, Soroka V. “Gene-gene Interaction” between FXIII-A VAL34LEU and PAI-1 – 675 4G/5G Polymorphisms Can Modify the Risk of Pulmonary Embolism in Young VTE Patients [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/gene-gene-interaction-between-fxiii-a-val34leu-and-pai-1-675-4g-5g-polymorphisms-can-modify-the-risk-of-pulmonary-embolism-in-young-vte-patients/. Accessed October 26, 2020.
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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/gene-gene-interaction-between-fxiii-a-val34leu-and-pai-1-675-4g-5g-polymorphisms-can-modify-the-risk-of-pulmonary-embolism-in-young-vte-patients/