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Role of gene polymorphisms related to hemostasis and estrogen receptors as risk factors for venous cerebral thrombosis


Venous cerebral thrombosis (VCT) is a special kind of venous thrombosis which is more frequent among women and is specially associated to sexual hormones exposure, including pregnancy and puerperium. Furthermore, it seems that prothrombin mutation G20210A is associated to VCT more than to other kinds of venous thromboembolism in some series of patients. Plasma prothrombin levels are elevated in individuals with the G20210A mutation, which can produce a thicker and fibrinolysis resistant fibrin, as observed in in vitro studies. For this reason, we will evaluate polymorphisms of factor XIII, responsible for stabilizing fibrin, and proteins related to fibinolysis, such as TAFI and PAI-1. Since VCT is more prevalent on women, especially those taking contraceptive pills or during pregnancy-puerperim, we will also evaluate the role of polymorfisms of 61537; and 61538; oestrogen receptors, wich have been related to arterial and venous thrombosis. This is a case-control study evaluating the role of some gene polymorphisms as risk factors for venous cerebral thrombosis, including: prothrombin mutation G20210A, Factor V Leiden G1691A, TAFI: -1053 A/G, -152A/G, 1040C/T and 505G/A, Factor XIII: Val34Leu, PAI-1: 4G/5G, oestrogen receptor :: PvuII (T397C) and XbaI (A351G), and oestrogen receptor : 1082 G/A e 1730 G/A. Consecutive patients who presented VCT will be compared to normal individuals of a control group and to patients who presented venous thromboembolism in sites other than cerebral veins. Patients and controls will be matched for sex, age and race. All thrombotic episodes must have been confirmed by objective methods. (AU)

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(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
ORIKAZA, CRISTINA M.; MORELLI, VANIA M.; MATOS, MARINEZ F.; LOURENCO, DAYSE M. Haplotypes of TAFI gene and the risk of cerebral venous thrombosis - a case-control study. THROMBOSIS RESEARCH, v. 133, n. 1, p. 120-124, JAN 2014. Web of Science Citations: 3.

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