Thrombosis

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.

F. M. Amaral, Miranda-Vilela, A. L., Lordelo, G. S., Ribeiro, I. F., Daldegan, M. B., and Grisolia, C. K., “Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.”, Genet Mol Res, vol. 16, no. 1, 2017.

Correlative study between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm

Z. C. Li, Fu, H. J., Wang, Z. M., Yang, S., Xu, H. Z., Li, Z. C., Fu, H. J., Wang, Z. M., Yang, S., and Xu, H. Z., “Correlative study between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm”, vol. 15, p. -, 2016.

In this study, we investigated the correlation between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm (MPN) using real-time fluorescence quantitative PCR. The incidence of thrombus was monitored and blood and coagulation were routinely assayed in patients with MPN. The JAK2V617F mutation was found in 8/68 individuals in the control group (11.8%); it was expressed in 44/68 patients with MPN (64.7%), suggesting that the rate of this mutation was significantly higher in patients with MPN than that in the control group.

Lack of association between potential prothrombotic genetic risk factors and arterial and venous thrombosis

F. C. G. Evangelista, Rios, D. R. A., Ribeiro, D. D., Carvalho, M. G., Dusse, L. M. S., Fernandes, A. P., and Sabino, A. P., “Lack of association between potential prothrombotic genetic risk factors and arterial and venous thrombosis”, vol. 14, pp. 9585-9594, 2015.

Recent studies have shown an association between thrombosis and factor VII (FVII), tissue factor (TF), and angiotensin-converting enzyme (ACE). This suggests that individuals with FVII-402 G/A, FVII-401 G/T, TF+5466 A/G, and ACE-287 insertion/deletion (I/D) polymorphisms present an increased risk of venous thrombosis, heart disease, and ischemic stroke compared with controls. In this study, we investigated the frequencies of these polymorphisms and their association with arterial and venous thrombosis.

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