ACE I/D Polymorphism in Brazilian Women with Endometriosis

Gabriela Rister Figueiredo Irie, Marly Aparecida Spadotto Balarin, Mariangela Torreglosa Ruiz-Cintra, Mariana Kefalas Oliveira Gomes, Marco Fabio Prata Lima, Alessandra Bernadete Trovó de Marqui

Abstract


Endometriosis is a chronic gynecological disease that displays some features similar to malignancy, such as local invasion, aggressive spread to distant organs and angiogenesis. Polymorphisms of the ACE gene have been linked with some vascular disease. To determine the frequency of the ACE I/D polymorphism in Brazilian patients with endometriosis compared to controls. This case-control study included a total of 134 women (49 endometriosis patients and 85 controls) who had undergone a laparoscopy or laparotomy. Molecular analysis was performed by polymerase chain reaction (PCR). For the statistical analysis, the chi-square and multiple logistic regression tests were used. The I/D ACE genotype frequencies in cases and controls were, respectively: II 16.3% and 16.5%; ID 24.5% and 20%; DD 59.2% and 63.5%. There was no statistically significant difference between cases and controls, either in the genotype frequencies (2 = 0.385; p = 0.825) or in the allele frequencies (2 = 0.098; p = 0.75) of the ACE I/D polymorphism. However, the genotype distribution was not consistent with the Hardy-Weinberg equilibrium, either in patients (2 = 7.84; p = 0.005) or in controls (2 = 20.09; p <0.0001). Multiple logistic regression analysis has not shown any differences amongst groups for the polymorphism studied [(OR 1.51; CI 95% 0.52- 4.41); p=0.4523]. Despite of the small sample size, the present study suggests that I/D ACE polymorphism is not related with endometriosis in brazilian patients.


Keywords: Angiotensin I-converting enzyme. Endometriosis. Polymorphisms. Brazilian population.

 

RESUMO


Polimorfismo ACE I/D em Mulheres Brasileiras com Endometriose


A endometriose é uma doença ginecológica crônica que apresenta algumas características semelhantes à malignidade, tais como invasão local, disseminação para órgãos distantes e angiogênese. Polimorfismos no gene ACE têm sido relacionados com algumas doenças vasculares. Determinar a frequência do polimorfismo ACE I/D em pacientes brasileiros com endometriose em comparação aos controles. Estudo caso-controle que incluiu um total de 134 mulheres (49 pacientes com endometriose e 85 controles) que se submeteram a uma laparoscopia ou laparotomia. A análise molecular foi realizada por Reação em Cadeia da Polimerase (PCR). A análise estatística utilizou os testes de qui-quadrado e regressão logística. As frequências genotípicas ACE I/D em casos e controles foram, respectivamente: II 16,3% e 16,5%; ID 24,5% e 20%; DD 59,2% e 63,5%. Não houve diferença estatisticamente significativa entre os casos e controles, tanto nas frequências genotípicas (2 = 0,385; p = 0,825) ou nas frequências alélicas (2 = 0,098; p = 0,75) do polimorfismo ACE I/D. Entretanto, a distribuição genotípica não foi consistente com o equilíbrio de Hardy-Weinberg, tanto nos pacientes (2 = 7,84; p = 0,005) ou nos controles (2 = 20,09; p <0,0001). A análise de regressão logística não mostrou qualquer diferença entre os grupos para o polimorfismo estudado [(OR 1,51; CI 95% 0,52-4,41); p=0,4523]. Apesar do pequeno número de amostras, o presente estudo mostra que em pacientes brasileiras o polimorfismo ACE I/D não está relacionado com endometriose.


Palavras-chave: Enzima conversora da angiotensina. População brasileira. Endometriose. Polimorfismos.


Keywords


angiotensin I-converting enzyme/ACE; Endometriosis; Single nucleotide polymorphisms/SNPs; Brazilian population

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