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Estudo de um polimorfismo do gene ADRB2 sobre os parâmetros bioquímicos do ferro e do eritrograma na insuficiência cardíaca
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Resumo(s)
A insuficiência cardíaca (IC) trata-se de uma patologia multifatorial que cursa com uma disfunção cardíaca que incapacita o coração de bombear o volume de sangue necessário para suprir as necessidades metabólicas do organismo. O papel da modulação neurohormonal (NH) está bem estabelecido como sendo fundamental para o aparecimento e progressão da IC, sendo um dos mecanismos no qual a terapêutica modificadora da doença intervém. Não obstante, a resposta a esta terapêutica não é semelhante em todos os doentes, o que sugere que existam diferenças genéticas em alguns dos recetores neuro-hormonais. Em particular, os recetores beta 2 são bastante polimórficos, sendo o polimorfismo Arg16Gly o mais frequente e o alvo deste estudo.
O papel da variação polimórfica deste gene na cascata de remodelação cardíaca e inflamação sistémica através da análise dos parâmetros do ferro e do eritrograma é o grande alvo deste estudo. Assim, foram analisadas amostras de DNA de doentes com IC e de indivíduos saudáveis, a partir das quais foram estudadas as variantes polimórficas do gene ADRB2. Em paralelo, foram também analisados os parâmetros eritrocitários (a hemoglobina, índice de distribuição eritrocitária e eritropoetina) e do ferro (ferro sérico, ferritina e saturação da transferrina). Verificou-se um efeito protetor do genótipo AG (OR = 0,334) e GG (OR = 0,273), bem como do modelo recessivo, apresentando o grupo AG+GG (OR = 0,307) um risco diminuído para IC. No que diz respeito aos parâmetros bioquímicos, no modelo dominante objetivaram-se valores significativamente superiores de ferritina nos doentes com genótipo AA+AG (IC, 95%) = (49,9-223,1).
Este estudo poderá contribuir para um melhor entendimento do papel da variação polimórfica dos genes dos adrenorecetores beta 2 nos mecanismos compensatórios do sistema nervoso simpático na IC.
Heart failure (HF) is a multifactorial pathology caused by cardiac dysfunction that disables the heart from pumping the necessary blood volume to meet the body's metabolic needs. The role of neurohormonal modulation is well established as being fundamental for the progression of HF, being one of the mechanisms in which pharmacological therapy intervenes. Despite this, the response to this therapy is not similar in all patients, which suggests that there are genetic variances in some of the neurohormonal receptors. In particular, beta 2 receptors are quite polymorphic, with the Arg16Gly polymorphism being the most frequent one. The role of the polymorphic variation of this gene in the cascade of cardiac remodelling and systemic inflammation through the analysis of iron parameters and the erythrogram is the main target of this study. Thus, DNA samples from patients with HF and healthy individuals were analysed, from which polymorphic variants of the ADRB2 gene were studied. In parallel, erythrocyte (haemoglobin, mean cell volume and erythropoietin) and iron (serum iron, ferritin and transferrin saturation) parameters were also analysed. We acknowledged a protective effect for the AG (OR = 0,334) and GG (OR = 0,273) genotype, as well as the recessive model, with the AG+GG group (OR = 0,307) presenting a reduced risk for HF. Regarding the haematological parameters, in the dominant model, significantly higher values of ferritin were sought in patients with the AA+AG genotype (CI, 95%) = (49,9-223,1). This study may contribute to a better understanding of the importance of polymorphic variance in the beta 2 receptor genes on the compensatory mechanisms of HF.
Heart failure (HF) is a multifactorial pathology caused by cardiac dysfunction that disables the heart from pumping the necessary blood volume to meet the body's metabolic needs. The role of neurohormonal modulation is well established as being fundamental for the progression of HF, being one of the mechanisms in which pharmacological therapy intervenes. Despite this, the response to this therapy is not similar in all patients, which suggests that there are genetic variances in some of the neurohormonal receptors. In particular, beta 2 receptors are quite polymorphic, with the Arg16Gly polymorphism being the most frequent one. The role of the polymorphic variation of this gene in the cascade of cardiac remodelling and systemic inflammation through the analysis of iron parameters and the erythrogram is the main target of this study. Thus, DNA samples from patients with HF and healthy individuals were analysed, from which polymorphic variants of the ADRB2 gene were studied. In parallel, erythrocyte (haemoglobin, mean cell volume and erythropoietin) and iron (serum iron, ferritin and transferrin saturation) parameters were also analysed. We acknowledged a protective effect for the AG (OR = 0,334) and GG (OR = 0,273) genotype, as well as the recessive model, with the AG+GG group (OR = 0,307) presenting a reduced risk for HF. Regarding the haematological parameters, in the dominant model, significantly higher values of ferritin were sought in patients with the AA+AG genotype (CI, 95%) = (49,9-223,1). This study may contribute to a better understanding of the importance of polymorphic variance in the beta 2 receptor genes on the compensatory mechanisms of HF.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2023
Palavras-chave
Insuficiência cardíaca Receptores adrenérgicos beta 2 (ADRB2) Inflamação Metabolismo do ferro Anemia