Abstract Number: PB2193
Meeting: ISTH 2020 Congress
Background: The most common clinical manifestations of venous thromboembolism (VTE) are deep-vein thrombosis (DVT) and pulmonary embolism (PE). Little is known about the factors associated with PE development in VTE patients. Individual genotype-dependent features of hemostatic system could influence the risk of VTE and peculiarities of its clinical presentation.
Aims: To assess effect of the plasminogen activator inhibitor type 1 (PAI-1) -675 4G/5G and tumor necrosis factor alpha (TNF-A) -308G/A gene polymorphisms on the risk of PE development in young VTE patients.
Methods: We included 400 young VTE patients (184 men and 216 women, mean age 33.1±8.3 years) originated from the North-Western region of Russia in the study. Isolated DVT was diagnosed in 245 (61.3%) patients. DVT complicated by PE (DVT+PE) was present in 94 (23.5%), whereas isolated PE – in 61 (15.2%) patients. Genotyping for PAI-1 -675 4G/5G and TNF-A -308 G/A 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 combination.
Results: Genotype frequencies for PAI-1 and TNF-A polymorphisms were not significantly different between the groups of patients with isolated DVT and those with PE. When compared to “isolated DVT” group, simultaneous presence of the PAI-1 4G/4G genotype and TNF-A -308A allele was detected more frequently in patients with DVT+PE (14.9% vs. 4.9%, respectively, OR=3.4, p=0.005) and isolated PE (13.1% vs. 4.9%, respectively, OR=2.9, p=0.037). As result, the frequency of combination of these variants was almost 3-fold increased in patients with the signs of PE (14.2% vs. 4.9% in “isolated DVT” group, OR=3.2; p=0.002).
Conclusions: Simultaneous presence of PAI-1 4G/4G and TNF-A -308A variants is associated with increased PE risk in young VTE patients. Further studies are needed to confirm this finding.
To cite this abstract in AMA style:Kapustin S, Chechulova A, Sidorova J, Burakov V, Soroka V, Soldatenkov V, Papayan L. “Gene-gene Interaction” between PAI-1 – 675 4G/5G and TNF-A -308 G/A Polymorphisms Can Modulate the Risk of Pulmonary Embolism in Young Patients with Venous Thromboembolism [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/gene-gene-interaction-between-pai-1-675-4g-5g-and-tnf-a-308-g-a-polymorphisms-can-modulate-the-risk-of-pulmonary-embolism-in-young-patients-with-venous-thromboembolism/. Accessed December 2, 2022.
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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/gene-gene-interaction-between-pai-1-675-4g-5g-and-tnf-a-308-g-a-polymorphisms-can-modulate-the-risk-of-pulmonary-embolism-in-young-patients-with-venous-thromboembolism/