Navegando por Palavras-chave "Intracranial Thrombosis/etiology"

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    Avaliação de polimorfismos de genes relacionados à hemostasia e de receptores de estrógeno como fatores de risco para desenvolvimento de trombose venosa cerebral
    (Universidade Federal de São Paulo (UNIFESP), 2011-02-21) Orikaza, Cristina Mary [UNIFESP]; Lourenco, Dayse Maria [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Cerebral venous thrombosis (CVT) is na uncommon disease with some particularities in relation to other-site thrombosis, including a higher frequency in young people, female sex and users of oral contraceptive (OC). Classic inherited risk factors for venous thromboembolism (VTE) and pulmonary embolism (PE) has already been investigated in CVT, yielding some controversial results. Objectives: to investigate in a case-control study the impact of polymorphisms of hemostasis and hormone genes on the risk of CVT in relation to other sites of VTE and of CVT in relation to controls. The polymorphisms included prothrombin mutation G20210A; Factor V Leiden; thrombin-activatable fibrinolysis inhibitor (TAFI) -1053 C/T, -438 G/A, -152 A/G, 505 G/A, 1040 C/T e 1542 C/T; plasminogen activator inhibitor-1 (PAI-1) 4G/5G; factor XIII Val34Leu and estrogen receptors (ER)-ƒÑ (-351A/G e -397 T/C) and ER-ƒÒ 1082 G/A. Patients and controls: the study population was composed of 72 CVT cases (56 women, median age 32.5, range 8-69 years), 128 VTE or PE cases (94 women, median age 38, range 17-70 years) and 143 normal controls (110 women, median age 37, range 18-66 years), sex, age and race matched. Methods: The polymorphisms were detected by PCR technique followed by enzyme digestion or allele-specific PCR. Results: when compared to controls, only prothrombin mutation increased the risk for CVT (OR 7.1; CI 95%: 1.77-28.3) and TEV (OR 5.48; CI 95%: 1.5-20.1). Among women, CVT risk related to prothrombin mutation was no longer significant after adjustment for hormone exposure (OR 0.13; CI 95% 0.02-0.97). Considering only men, the wild haplotype of ER-ƒÑ (351A e 397T) increased CVT risk in comparison to VTE (OR 5.53; CI 95% 1.08 - 28.19). However, due to the large confidence interval, it is necessary to confirm this finding with a higher number of male subjects. TAFI gene haplotypes demonstrated interesting differences in CVT group, with higher presence of cis effect. In cis effect, rare alleles segregate together in the same chromosome, which may cause cumulative effects in a single protein. In order to emphasize this result, it was demonstrated that the presence of wild haplotype TAFI 505G/1040C resulted in a protector effect of CVT compared to control (OR 0.54; CI 95%: 0.03-0.96) and VTE (OR 0.42; CI 95% 0.23-0.76) groups. Conclusions: Prothrombin mutation was a risk factor for CVT and VTE compared to controls. Hormonal exposure seems to modulate CVT risk determined by prothrombin mutation and PAI-1 4G4G. The haplotypes of ER-ƒÑ (351A and 397T) and of TAFI (505G and 1040C) were associated to CVT, increasing or lowering its risk, respectively. The other polymorphisms did not show any influence on CVT and VTE risk in this study population.