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Study of the contribution of modulators of iron homeostasis in heart failure

Matias, Ana; Santos, Mafalda; Aguia, Laura; Mascarenhas, Mário Rui; Barbosa, Mário; Melício, Ana; Menezes Falcão, Luiz; Faustino, Paula; Manuel, Bicho

Introduction: Heart failure (HF) is considered one of the biggest public health problems, affecting 2% of the world's population. Is defined as a clinical syndrome due to a structural and/or functional abnormality of the heart that results in elevated intracardiac pressures and/or inadequate cardiac output at rest and/or during exercise. It can be influenced by several genetic modulators, in particular genes re...


Influence of the TAS2R38 gene single nucleotide polymorphisms in metabolism and...

Mendes Costa, Marta; Silva, Alda Pereira da; Santos, Ana Carolina; Ferreira, Joana; Mascarenhas, Mário Rui; Bicho, Manuel; Barbosa, Ana

The gene TAS2R38 single nucleotide polymorphisms (SNPs-P49A, A262V and V296I) can condition bitter tasting by PAV (proline–alanine–valine) and non-bitter-tasting by AVI (alanine–valine–isoleucine) homozygosity. We evaluated this polymorphisms association with thyroid function, metabolism and anthropometry parameters determined by: Endpoint analysis (SNPs); DXA (fat mass-%, total fat mass—kg, lean mass—kg); Stan...


Estudo da interação entre moduladores da homeostasia do ferro e o gene ECA na i...

Gaspar, Marcos A.; Aguiar, Laura; Ferreira, Joana; Faustino, Paula; Mascarenhas, Mário Rui; Menezes Falcão, Luís; Bicho, Manuel; Inácio, Ângela

Introdução: A insuficiência cardíaca (IC) diz respeito a um síndrome clínico composto por um conjunto de sintomas e/ou sinais com origem numa anomalia cardíaca estrutural e/ou funcional e que dá origem à inabilidade de bombear sangue em quantidade suficiente, de forma a preencher as necessidades metabólicas do organismo. No presente trabalho, pretendemos perceber como a interação entre a variação I/D no gene EC...


Study of the interaction between modulators of iron homeostasis and the ACE gen...

Gaspar, Marcos A.; Aguiar, Laura; Ferreira, Joana; Faustino, Paula; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Bicho, Manuel; Inácio, Ângela

Introduction: Heart failure (HF) refers to a clinical syndrome composed of a set of symptoms and/or signs that originate from a structural and/or functional cardiac anomaly and that give rise to the inability to pump blood in sufficient quantity, to meet the body's metabolic needs. In the present work, we intend to understand how the interaction between the I/D variation in the ACE gene and possible modulators ...


Osteoporosis after menopause: interaction between genes related to iron metabol...

Aguiar, Laura; Ferreira, Joana; Binda Pereira, Raquel; Barbosa, Ana Paula; Mascarenhas, Mário Rui; Faustino, Paula; Inácio, Ângela; Bicho, Manuel

Introduction: Osteoporosis is a common metabolic bone disease characterized by reduced bone mass and increased risk of fragility fractures. The pathogenesis of this disease is complex and influenced by multiple risk factors, where genetic factors play an important role. Menopause predisposes women to osteoporosis due to declining estrogen levels. Osteoporosis and iron metabolism have an important relationship. ...


Contribution of HFE and HPSE genes and methaemoglobin reductase activity to hea...

Gaspar, Marcos A.; Aguiar, Laura; Ferreira, Joana; Faustino, Paula; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Bicho, Manuel; Inácio, Ângela

Introduction: Heart failure can be defined as a syndrome caused by a structural anomaly and/or by a committed cardiac function, which leads to an inadequate cardiac output unable to meet the metabolic necessities of the organism. We aim to understand if HFE and HPSE genes as well as methaemoglobin reductase activity, may influence the development of heart failure. Methodology: It was performed a case-control st...


Interplay between glycemia and the genetics of eNOS and ACE for the susceptibil...

Aguiar, Laura; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Faustino, Paula; Bicho, Manuel; Inácio, Ângela

Hypertension is a multifactorial condition of genetic and environmental nature. In Portugal the mean prevalence of hypertension in the population is 45.5%. The aim of this study is to evaluate the contribution of anthropometric, physiological and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. A case-control study was conducted in a sample of 377 individuals, 243 hy...


Interplay between glycemia and the genetics of ENOS and ACE genes for the susce...

Aguiar, Laura; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Faustino, Paula; Bicho, Manuel; Inácio, Ângela

Introduction: Hypertension is a multifactorial condition of anthropometric, physiologic, metabolic, genetic, and environmental nature. In Portugal, the mean prevalence of hypertension in the population is 45.5%. Objective: The aim of this study is to evaluate the contribution of anthropometric, physiological, and genetic factors (eNOS and ACE) to the development of hypertension in a Portuguese population. Metho...


Contributo dos genes NOS e ECA para a suscetibilidade de elevar a glicemia em h...

Aguiar, Laura; Semente, Ildegário; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luíz; Faustino, Paula; Bicho, Manuel

Introdução: A Hipertensão Arterial (HTA) é um fator de risco cardiovascular muito prevalente em Portugal. Esta patologia é multifatorial, envolvendo fatores genéticos e ambientais. A resistência à insulina e a hipertensão são componentes do síndroma metabólico e frequentemente coexistem. Níveis aumentados de glicemia associados a hipertensão aumentam significativamente o risco de doença cardiovascular. Objetivo...


Polimorfismos genéticos e a sua interação na suscetibilidade para a hipertensão...

Aguiar, Laura; Semente, Ildegário; Ferreira, Joana; Matos, Andreia; Mascarenhas, Mário Rui; Menezes Falcão, Luiz; Faustino, Paula; Bicho, Manuel

Introdução: A Hipertensão Arterial (HTA) é um fator de risco cardiovascular muito prevalente em Portugal. Esta patologia é multifatorial, envolvendo fatores genéticos e ambientais. Objetivo: Este estudo teve como objetivo investigar a potencial implicação de polimorfismos genéticos nos genes eNOS e ECA e da sua interação na suscetibilidade para a HTA na população portuguesa. Métodos: Foi realizado um estudo de ...


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