Angiotensin converting enzyme (ACE) DD genotype: relationship with venous thrombosis Genótipo DD da enzima conversora de angiotensina (ECA): relação com trombose venosa

Venous thromboembolism is a common multifactorial disease associated with acquired and inherited predisposing factors. Several polymorphisms, e.g. factor V Leiden, factor II G20210A and deficiency of antithrombin, protein C and protein S, have been associated with venous thromboembolism. Angiotensin converting-enzyme affects hemostasis by decreasing fibrinolysis. Angiotensin converting-enzyme gene polymorphism, a 287 pb insertion/deletion at introns 16, is related to variations in enzyme serum levels. The DD genotype has been associated with increased risk for venous thrombosis. This study examined the frequency of the angiotensin converting-enzyme alleles I and D and their association with venous thrombosis in a group of individuals from the south of Brazil. Seventy-one patients with deep venous thrombosis and/or pulmonary thromboembolism and 71 healthy individuals were analysed in a case-control study. The angiotensin converting-enzyme ID genotyping was performed by polymerase chain reaction. The frequencies of the D allele and DD genotype were, respectively, 51.4% and 22.5% for patients, and 64.7% and 45.0% for controls. The Odds Ratio for the dominant hypothesis (DD+ID versus II genotypes) was 0. 75 (CI 95%; 0.29-1.93) and the Odds Ratio for recessive hypothesis (DD versus ID+II) was 0.35 (CI 95%; 0.16-0.78). In conclusion, our results indicate a protective effect of the angiotensin converting-enzyme DD genotype on venous thromboembolism.O troemboembolismo venoso (TEV) é uma doença multifatorial associada com fatores de risco adquiridos e hereditários. Vários polimorfismos, tais como fator V de Leiden, mutação G20210A da protrombina e as deficiências de proteína C, proteína S e anti-trombina são considerados fatores de risco para TEV. A enzima conversora da angiotensina (ECA) afeta a hemostasia diminuindo a fibrinólise. O polimorfismo no gene da ECA, caracterizado pela inserção/deleção de um fragmento de 287 pb no intron16, está relacionado a variações nos níveis séricos da enzima. O genótipo DD foi associado com aumento de risco para TEV. Este estudo examinou a freqüência dos alelos I e D e a sua associação com trombose venosa em um grupo de indivíduos do Sul do Brasil. Foram analisados 71 pacientes com trombose venosa profunda e/ou tromboembolismo pulmonar e 71 indivíduos sem história de trombose. A genotipagem foi realizada através da reação em cadeia da polimerase. As freqüências do alelo D e do genótipo DD foram, respectivamente, 51,4% e 22,5% par