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A Diabetes mellitus tipo 2 (DM2) é uma patologia de etiologia múltipla à qual estão associados vários factores genéticos. A Enzima Conversora da Angiotensina (ECA) tem sido alvo de vários estudos pela sua relação com factores pró-inflamatórios, pró-oxidantes e pró-fibrose, sendo o polimorfismo de Inserção/Delecção o mais estudado. Neste contexto, o objectivo deste estudo é assim verificar a distribuição deste polimorfismo numa amostra de indivíduos de nacionalidade portuguesa e verificar a sua possível associação com a DM2.
Para tal, foram analisadas 87 amostras (controlos n =24 e diabéticos n =63) de indivíduos de nacionalidade portuguesa. As amostras foram submetidas a um processo de extracção de ADN, sendo posteriormente amplificadas por Polymerase Chain Reaction e analisadas por eletroforese em gel de agarose a 1%.
Observou-se uma prevalência de 8% (n=7) com genótipo I/I, 38% (n=33) com genótipo I/D e 54% (n=47) com genótipo D/D. A amostra em estudo demonstrou assim estar sob o equilíbrio Hardy-Weinberg. Observou-se também uma associação entre níveis mais elevados de glicemia e o genótipo I/I (p=0,019). Na análise da utilização de insulina no controlo dos níveis de glicemia na DM2, observou-se uma maior proporção de indivíduos com genótipo D/D.
Este estudo demonstra a importância do investimento da caracterização genética em patologias metabólicas multifactoriais como a DM2.
Type 2 Diabetes (T2DM) is a multiple etiology disease to which are associated several genetic factors. Angiotensin Converting Enzyme (ACE) has been the subject of many studies for its association with pro-inflammatory, pro-oxidant and pro-fibrosis factors. The Insertion/Deletion polymorphism has attracted significant attention being one of the most investigated polymorphisms. In this context, the aim of this study is to investigate the distribution of this polymorphism in a sample of Portuguese citizens and to study the possible association between the I/D polymorphism and T2DM. Eighty seven samples were analyzed (controls n=24 and diabetics n=63). The collected samples were subjected to DNA extraction and were amplified by Polymerase Chain Reaction (PCR). After PCR amplification all samples were analyzed by electrophoresis in agarose gel 1%. The genotype frequencies were I/I - 8% (n=7), I/D - 38% (n=33), and D/D - 54% (n=47), demonstrating that the study sample is under the Hardy-Weinberg equilibrium. There was an association between higher blood glucose levels and I/I genotype (p=0,019). When analyzed the use of insulin to control blood glucose levels in T2DM there was a higher proportion of individuals with D/D genotype. This study demonstrates the importance of investment in genetic characterization of multifactorial metabolic diseases like diabetes.
Type 2 Diabetes (T2DM) is a multiple etiology disease to which are associated several genetic factors. Angiotensin Converting Enzyme (ACE) has been the subject of many studies for its association with pro-inflammatory, pro-oxidant and pro-fibrosis factors. The Insertion/Deletion polymorphism has attracted significant attention being one of the most investigated polymorphisms. In this context, the aim of this study is to investigate the distribution of this polymorphism in a sample of Portuguese citizens and to study the possible association between the I/D polymorphism and T2DM. Eighty seven samples were analyzed (controls n=24 and diabetics n=63). The collected samples were subjected to DNA extraction and were amplified by Polymerase Chain Reaction (PCR). After PCR amplification all samples were analyzed by electrophoresis in agarose gel 1%. The genotype frequencies were I/I - 8% (n=7), I/D - 38% (n=33), and D/D - 54% (n=47), demonstrating that the study sample is under the Hardy-Weinberg equilibrium. There was an association between higher blood glucose levels and I/I genotype (p=0,019). When analyzed the use of insulin to control blood glucose levels in T2DM there was a higher proportion of individuals with D/D genotype. This study demonstrates the importance of investment in genetic characterization of multifactorial metabolic diseases like diabetes.
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Instituto Politécnico do Porto. Escola Superior de Tecnologia da Saúde do Porto