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P42 Association of c677t polymorphism of mthfr gene with hemostasis changes in adolescents with essential hypertension
  1. Rychkova Lubov,
  2. Bolshakova Svetlana,
  3. Gomellya Marina,
  4. Bairova Tatyana,
  5. Berdina Olga,
  6. Bugun Olga
  1. Scientific Centre for Family Health and Human Reproduction Problems


Background and aims It is known that thrombosis in adolescents with essential hypertension (EH) are rare, however pro-coagulation hemostatic changes are multifactorial and requires detailed study. One of the risk factors can be C677T polymorphism of MTHFR gene, which changes of homocysteine metabolism, rendering thrombogenic effect. Thus, the aim of this study is to study association of C677T polymorphism of MTHFR gene with hemostasis parameters in hypertensive adolescents with and without protrombotic changes (PTC).

Methods We examined 97 Caucasian adolescents with EH, living in Eastern Siberia, aged 14–17 years. Demographic and anthropometric data were routinely collected. Hemostatic study was performed applying auto-coagulometr STA-R Evolution (Roche Diagnostics, Switzerland). Genetic polymorphism detection was carried out using polymerase chain reaction with specific primers («SNP-express», Litex, Russia). All patients were selected for participation in this study based on their coagulation activity and C677T genotype. The 1-rst group – 29 adolescents with PTC and C/T and T/T genotypes; the 2-nd group – 8 patients with PTC and C/C genotypes; the 3-rd group – 28 adolescents without PTC and with C/T and T/T genotypes; the 4-th group – 32 patients without PTC and with C/C genotypes. All differences were considered significant at p<0.05.

Results Adolescents with EH and PTC did not significantly differ from non-PTC participants in age, sex and body mass index. There were statistically significant intergroup differences in the some hemostatic parameters in hypertensive C/T and T/T genotypes carriers. Thus, average fibrinogen concentration in the 1 st group was 3.6±0.8 g/L, in the 2-nd group – 3,1±0.5 g/L, in the 3-rd group – 3.1±0.5 g/L, and in the 4-th – 3.2±0.4 g/L (p1–3=0.03). Averaged soluble fibrin monomer complexes level was 7.9±2.0 g/dl, 6.2±0.9 g/dl, 4.8±0.6 g/dl, and 4.4±0.7 g/dl, respectively (p1–2=0.01, p3–4=0.02, p2–4=0.0001, p1–3=0.0001, respectively).

Conclusions The results of this study indicate for more pro-coagulation changes and risk of thrombotic complication in hypertensive C/T and T/T genotypes carriers with PTC. This is due to the endothelial dysfunction caused homocysteine metabolism disorder because of heredity low MTHFR ferment activity. Thus, design of approaches to prevention and treatment of cardiovascular diseases and hemostatic disorders should be performed with the personalise medicine position.

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