Associação dos polimorfismos nos genes dos receptores alfa e beta do estrogeno em pacientes com trombose venosa profunda / Association of polymorphisms in (alpha) and (beta) estrogen receptor genes in patients with deep venous thrombosis
AUTOR(ES)
Aline Morandi Alessio
DATA DE PUBLICAÇÃO
2006
RESUMO
Estrogen acts in haemostasis promoting pro and antithrombotic effects. Its action occurs through linking the specific nuclear receptors called alfa and beta estrogen receptor (ER). Polymorphisms in the genes that codify the ER a and ~could modulate estrogen response, as well as gene transcription and expression. There are acquired risk factors for deep venous thrombosis (DVT) that can alter the estrogen levels. These factors are oral contraceptives (OC), hormonal replacement therapy, pregnancy, and puerperium. The objectives of this study were to associate the polymorphisms in the genes of the a and ~ER in controls, women and rnen with DVT, and to evaluate the influence of these polyrnorphisms in protein C, protein S (PS), in antithrombin activity and fibrinogen concentration. Women under OC use with the AA genotype ofthe G1730A polyrnorphism, and pregnant women with the AA and GA genotypes of the G1082A polymorphism, both in the ER-~ gene, could have a protective effect for DVT risk. However, GG genotype of the G1730A polymorphisrn has an influence in the increase of the PS activity in women of the total control group and women under OC use; and the AA and AG genotypes of the A351G polymorphism in the ER-a gene, and the GG genotype of the G1O82A polymorphism have an effect in the increase of the fibrinogen leveI in pregnant women. However, the G20210A rnutation in the prothrombin gene, the Leiden V factor and the polymorphisms in the ER- alfa gene were predictor factors of venous thrombosis. Despite Brazilian miscegenation, PC activity was lower in Afro-descendent women. Our results suggest that the polymorphisrns in the ER- beta gene have a higher influence for DVT risk. The contribution of this study is of great importance, as no study has associated DVT risk with the ER polymorphisms yet
ASSUNTO(S)
trombose venosa polymorphism polimorfismo estrogenos - receptores deep venous thrombosis estrogen
ACESSO AO ARTIGO
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