Contributions
Abstract: EP1332
Type: E-Poster Presentation
Session title: Thrombosis and vascular biology - Biology & Translational Research
Background
The Hageman factor (factor XII, FXII) is involved in initiation of internal blood coagulation pathway, regulation of fibrinolysis and kallikrein-kinin system, and activates coagulation factors VII and XI. The 46 C/T polymorphism in the gene coding for FXII is associated with decrease of both level and activity of this factor in blood plasma. However, the role of the FXII 46 C/T polymorphism in venous thromboembolism (VTE) development is not yet clear.
Aims
To assess the role of the FXII 46 C/T polymorphism in VTE development in patients from the North-Western region of 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 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 individuals. All individuals originated from the North-Western region of 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
Comparative analysis of gene variants distribution for the FXII 46 C/T polymorphism in VTE patients and CG did not reveal any statistically significant difference. 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. Interestingly, the presence of 46T allele was more frequently detected in patients with late-onset VT (58.0% vs. 48.8% in young patients; OR=1.5; 95% CI: 1.0-2.0; p=0.038). Homozygosity for the 46T allele was found in 24 (12.0%) patients with late-onset VT and 29 (7.3%) young patients (OR=1.7; 95% CI: 1.0-3.1; p=0.066). When compared to CG, the frequency of 46TT genotype was almost 2-fold increased in patients with VT manifested after 45 years old (12.0% vs. 6.5%, respectively; OR=2.0; 95% CI: 1.0-4.0; p=0.083).
Conclusion
Our data suggest that the FXII 46 C/T gene polymorphism could influence the risk of late-onset VT development in patients from the North-Western region of Russia. Further studies are needed to confirm this association.
Keyword(s): Gene polymorphism, Venous thromboembolism
Abstract: EP1332
Type: E-Poster Presentation
Session title: Thrombosis and vascular biology - Biology & Translational Research
Background
The Hageman factor (factor XII, FXII) is involved in initiation of internal blood coagulation pathway, regulation of fibrinolysis and kallikrein-kinin system, and activates coagulation factors VII and XI. The 46 C/T polymorphism in the gene coding for FXII is associated with decrease of both level and activity of this factor in blood plasma. However, the role of the FXII 46 C/T polymorphism in venous thromboembolism (VTE) development is not yet clear.
Aims
To assess the role of the FXII 46 C/T polymorphism in VTE development in patients from the North-Western region of 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 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 individuals. All individuals originated from the North-Western region of 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
Comparative analysis of gene variants distribution for the FXII 46 C/T polymorphism in VTE patients and CG did not reveal any statistically significant difference. 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. Interestingly, the presence of 46T allele was more frequently detected in patients with late-onset VT (58.0% vs. 48.8% in young patients; OR=1.5; 95% CI: 1.0-2.0; p=0.038). Homozygosity for the 46T allele was found in 24 (12.0%) patients with late-onset VT and 29 (7.3%) young patients (OR=1.7; 95% CI: 1.0-3.1; p=0.066). When compared to CG, the frequency of 46TT genotype was almost 2-fold increased in patients with VT manifested after 45 years old (12.0% vs. 6.5%, respectively; OR=2.0; 95% CI: 1.0-4.0; p=0.083).
Conclusion
Our data suggest that the FXII 46 C/T gene polymorphism could influence the risk of late-onset VT development in patients from the North-Western region of Russia. Further studies are needed to confirm this association.
Keyword(s): Gene polymorphism, Venous thromboembolism