CM-08. Polymorphism of factor V blood coagulation gene (G1691A) in patients with chronic myeloproliferative diseases in Kyrgyzstan

Summary

Introduction

Thrombotic complications (TС) often lead to disability and mortality in patients with CMPD. Modern researchers consider hereditary thrombophilia to be one of the factors leading to TC, mediated by allelic variants of genes, including clotting factor V (Leiden mutation, proaccelerin). Therefore, we aimed to perform studies of genetic polymorphism of the factor V blood clotting factor (G1691A) (proaccelerin, F5 Leiden) in the patients with chronic myeloproliferative diseases treated in Kyrgyzstan.

Materials and methods

The study was performed by real-time PCR, using a set of reagents “Cardiogenetics of Thrombophilia” (DNA Technology, Russia). We have analyzed 120 DNA samples isolated from peripheral blood of the patients with chronic myeloproliferative diseases (CMPD) – essential thrombocythemia (ET, n=22); chronic myeloid leukemia (CML, n=10), polycythemia vera (PV, n=41), as well as conditionally healthy donors of the control group (GC, n=47). The patients’ age was 22 to 67 years (males, 64 cases). Statistical analysis of the results was carried out with Statistica 2008 software.

Results

Statistically significant differences were searched between the patients with chronic myeloproliferative diseases and conventionally healthy donors. Frequency of the G1691A gene and its possible genotypes in the population of Kyrgyzstan were determined. In the control group, the presence of nucleotide polymorphism in the factor V gene (G1691A) was found in 3 (6.3%) people, two of whom had TC manifesting as arterial thrombosis (AT). TC occurred in 21 (28.8%) patients with CMPD: acute myocardial infarction, in 9 cases (12.3%); acute disturbances of cerebral circulation, in 11 patients (15%); arterial thrombosis, in 10 cases (13.7%); venous thrombosis, in 4 subjects (5.5%). The women in this group accounted for 74.4% (n=15). Among all patients, the factor V gene polymorphism was found in 8 cases (10.9%). Heterozygous variant of the (G\A) mutation was revealed in 1 patient (1.4%) with ET, and 1 CML case, as well as in 2 patients (2.7%) with PI. A homozygous carriage of the A\A polymorphism in factor V gene was found in 6 patients (8.2%) with CMPD. When comparing the groups of CMPD patients and the control group, some statistically significant trends (p <0.1) in the factor V gene were found, which are detectable in both TO cases and thrombosis-free patients.

Conclusion

Thrombophylic polymorphism in factor V gene is often found in patients with CMPD in Kyrgyzstan and is may be significant in development of thrombotic complications. More research is needed on other markers of hereditary thrombophilia in Kyrgyzstan, since the obtained results differ from the data of European studies, which indicate that the frequency of detection of classical markers of hereditary thrombophilia in the CMPD patients is not higher than in general population.

Keywords

Chronic myeloproliferative diseases, genetic polymorphism, thrombophilia.