Abstract Number: PB1144
Meeting: ISTH 2021 Congress
Theme: Venous Thromboembolism » Genetic Risk Factors of Thrombosis
Background: Factor XII (FXII, Hageman factor) is involved in initiation of internal blood coagulation pathway, regulation of fibrinolysis and kallikrein-kinin system. The FXII 46 C/T gene polymorphism is associated with decrease of both level and activity of this factor. Role of the FXII 46 C/T polymorphism in venous thromboembolism (VTE) development is still not clear.
Aims: To evaluate the role of the FXII 46 C/T gene polymorphism in VTE development in patients from the North-Western Russia.
Methods: We examined 600 patients (294 men and 306 women, mean age − 43.6±15.3 years) with VTE. In 400 patients, the first episode of VTE was diagnosed at young age (45 years or less). Other 200 patients composed the group with late-onset VTE. The control group (CG) consisted of 200 age- and sex-matched healthy persons. All individuals originated from the North-Western Russia and gave informed consent for participation in the study. Genotyping for the FXII 46 C/T polymorphism was performed by PCR-RFLP. The differences in genotypes distribution between the groups were estimated by Fisher`s exact test.
Results: Distribution of the FXII 46 C/T variants was similar between VTE patients and CG. Frequencies for the CC, CT and TT genotypes were 48.2%, 43.0%, 8.8% in patients, and 48.0%, 45.5%, 6.5% in controls, respectively. The 46T allele was more frequently present in patients with late-onset VTE (58.0% vs. 48.8% in young patients; OR=1.5; p=0.038). Homozygosity for the 46T allele was found in 24 (12.0%) patients with late-onset VTE and 29 (7.3%) young patients (OR=1.7; p=0.066). When compared to CG, the frequency of 46TT genotype was almost 2-fold increased in patients with VTE manifested after 45 years old (12.0% vs. 6.5%, respectively; OR=2.0; p=0.083).
Conclusions: Our data suggest that the FXII 46 C/T gene polymorphism could be a possible risk factor for late-onset VTE development in patients from the North-Western Russia.
To cite this abstract in AMA style:
Chechulova A, Kapustin S, Soroka V, Soldatenkov V, Papayan L, Galchenko M. FACTOR XII 46 C/T Gene Polymorphism as a Possible Risk Factor for Late-onset Venous Thromboembolism in Patients from the North-Western Russia [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/factor-xii-46-c-t-gene-polymorphism-as-a-possible-risk-factor-for-late-onset-venous-thromboembolism-in-patients-from-the-north-western-russia/. Accessed September 22, 2023.« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/factor-xii-46-c-t-gene-polymorphism-as-a-possible-risk-factor-for-late-onset-venous-thromboembolism-in-patients-from-the-north-western-russia/