Study of thrombophilia genetic polymorphisms and hemostasis parameters in a group of young athletes: 575.174.015.3:616-005.6

Abstract

Summary. Introduction. Thrombophilia polymorphisms contributes to thrombus formation and cardiovascular complications. Their presence is particularly important to consider in athletes at risk involved in injury-prone sports. Aim: to study thrombophilia genetic polymorphisms and hemostasis parameters in a group of young athletes. Materials and Methods. An observational cross-sectional sampling study was
performed to analyze polymorphisms rs6025 in the FV gene, rs1799963 in the FII gene and rs1801133 in the MTHFR gene in 183 athletes (108 men and 75 women) aged 18 to 28 years. To analyze phenotypic manifestations of the studied polymorphisms, three hemostasis parameters were determined in 180 plasma samples — fibrinogen level, D-dimer level, and platelet count. Results. Genotyping of athletes
showed that the minor allele frequency for the FV, FII and MTHFR genes was 0.8, 1.4, and 26.1%, respectively. The following distribution of genotype frequencies was revealed: G/G — 98.4%, G/A — 1.6% for the FII gene; G/G — 97.3%, G/A — 2.7% for the FV gene; C/C — 52.9%, C/T — 41.9%, T/T — 5.2% for the MTHFR gene. Elevated D-dimer levels were observed in 29.8% of athletes; the average fibrinogen level and
platelet count were within the reference limits. Conclusion. We determined the allele and genotype frequencies of polymorphisms rs6025 in the FV gene, rs1799963 in the FII gene and rs1801133 in the MTHFR gene. The phenotypic manifestations of the polymorphisms were assessed using coagulation tests. With the studied polymorphisms in the FII, FV, MTGFR genes, no phenotypic manifestations as changes in
hemostasis parameters were found.

For citation: Guskova A.V., Shalyova A.A., Subbotina T.N., Vereshchagina S.V., YakimenkoO.N., Chernova A.A., Suzdaleva I.A. Study of thrombophilia genetic polymorphisms and hemostasis parameters in a group of young athletes. Tromboz, gemostaz i reologiya. 2025;(2):103–112. (In Russ.).

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