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Association of Obesity-Related Genetic Variants with Android Fat Patterning and...

Sá, Débora; Mendonça, Maria Isabel; Sá, Débora; Sousa, Francisco; Abreu, Gonçalo; Ferreira, Matilde; Henriques, Eva; Freitas, Sónia; Rodrigues, Mariana

Background/Objectives: The location and distribution of excess fat, rather than overall adiposity, are stronger predictors of cardiometabolic risk and are commonly assessed using the waist-to-hip ratio (WHR). Fat distribution in women has a heritable component, yet the genetic factors that influence it remain poorly understood. We aim to assess the association between obesity-related polymorphisms with WHR and ...


Unraveling the genetic basis of subclinical atherosclerosis

Sá, Débora; Mendonça, Maria Isabel; Serrão, Marco; Sousa, Francisco; Abreu, Gonçalo; Henriques, Eva; Borges, Sofia; Freitas, Sónia; Rodrigues, Mariana

Introduction and objectives: Decoding the genetic basis of coronary artery disease (CAD) through an intermediate phenotype – coronary calcification – can help us to better understand this deadly disease and enable the creation of better therapeutic strategies. This work aims to assess the relationship between a set of single nucleotide polymorphisms (SNPs) previously associated with CAD and coronary artery calc...


Epicardial adipose tissue is a promising imaging biomarker of subclinical ather...

Mendonça, Maria Isabel; Sousa, João Adriano; Serrão, Marco; Santos, Marina; Temtem, Margarida; Sá, Débora; Sousa, Francisco; Henriques, Eva

Identifying markers to discriminate high and low-risk individuals better is essential. Coronary Calcium Score (CAC) is an established marker of subclinical atherosclerosis. Epicardial Adipose Tissue (EAT), a new imaging biomarker, has shown considerable interest in the scientific community.


Genetic information improves the prediction of major adverse cardiovascular eve...

Mendonca, Maria Isabel; Henriques, Eva; Borges, Sofia; Sousa, Ana Célia; Pereira, Andreia; Santos, Marina; Temtem, Margarida; Freitas, Sónia

The inclusion of a genetic risk score (GRS) can modify the risk prediction of coronary artery disease (CAD), providing an advantage over the use of traditional models. The predictive value of the genetic information on the recurrence of major adverse cardiovascular events (MACE) remains controversial. A total of 33 genetic variants previously associated with CAD were genotyped in 1587 CAD patients from the GENE...


Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk ...

Sousa, João Adriano; Mendonca, Maria Isabel; Serrão, Marco; Borges, Sofia; Henriques, Eva; Freitas, Sónia; Tentem, Margarida; Santos, Marina

Evidence points epicardial adipose tissue (EAT) as an emerging cardiovascular risk marker. Whether genetic polymorphisms linked with atherosclerosis are associated with higher EAT is still unknown. We aim to assess the role of genetic burden of atherosclerosis and its association to EAT in a cohort of asymptomatic individuals without coronary disease. A total of 996 participants were prospectively enrolled in a...


Epicardial Adipose Tissue

Sousa, João Adriano; Mendonça, Maria Isabel; Serrão, Marco; Borges, Sofia; Henriques, Eva; Freitas, Sónia; Tentem, Margarida; Santos, Marina

Evidence points epicardial adipose tissue (EAT) as an emerging cardiovascular risk marker. Whether genetic polymorphisms linked with atherosclerosis are associated with higher EAT is still unknown. We aim to assess the role of genetic burden of atherosclerosis and its association to EAT in a cohort of asymptomatic individuals without coronary disease. A total of 996 participants were prospectively enrolled in a...


Polimorfismos Genéticos Associados ao Aparecimento de Hipertensão Arterial Numa...

Sousa, Ana Célia; Palma dos Reis, Roberto; Pereira, Andreia; Borges, Sofia; Freitas, Ana Isabel; Guerra, Graça; Gouveia, Sara; Góis, Teresa

Introdução: A hipertensão arterial é uma doença complexa, multifatorial, controlada por fatores genéticos e ambientais. Objetivo: Avaliar a susceptibilidade genética no aparecimento de hipertensão arterial e sua associação com os fatores de risco tradicionais na eclosão desta patologia. Material e Métodos: Estudo caso-controlo com 1712 indivíduos, idade média de 51,0 ± 7,9 anos (860 hipertensos e 852 controlos)...


A variante genética c825t da subunidade β3 da proteína G associa‐se com a hiper...

Sousa, Ana Célia; Palma dos Reis, Roberto; Pereira, Andreia; Borges, Sofia; Gouveia, Sara; Spínola, Adelaide; Freitas, Ana Isabel; Guerra, Graça

Hypertension is an important public health problem, affecting about 25% of the adult population worldwide.1 Genetic and environmental factors contribute to its pathogenesis. The T allele of the C825T polymorphism of the beta 3 subunit of G protein (rs5443) leads to the production of a truncated variant that enhances intracellular signaling and may interfere with the regulation of blood pressure. This genetic va...


Additional value of a combined genetic risk score to standard cardiovascular st...

Pereira, Andreia; Mendonca, Maria Isabel; Borges, Sofia; Sousa, Ana Célia; Freitas, Sónia; Henriques, Eva; Rodrigues, Mariana; Freitas, Ana Isabel

The utility of genetic risk scores (GRS) as independent risk predictors remains inconclusive. Here, we evaluate the additive value of a multi-locus GRS to the Framingham risk score (FRS) in coronary artery disease (CAD) risk prediction. A total of 2888 individuals (1566 coronary patients and 1322 controls) were divided into three subgroups according to FRS. Multiplicative GRS was determined for 32 genetic varia...


Genetic Polymorphisms Associated with the Onset of Arterial Hypertension in a P...

Sousa, Ana Célia; Reis, Roberto Palma dos; Pereira, Andreia; Borges, Sofia; Freitas, Ana Isabel; Guerra, Graça; Gouveia, Sara; Góis, Teresa

Introduction: Arterial hypertension is a complex, multifactorial disease, controlled by genetic and environmental factors.Objective: Evaluate the genetic susceptibility for developing arterial hypertension and its association with the traditional risk factors in the outbreak of this pathology.Material and Methods: Case-control study with 1712 individuals, mean age of 51.0 ± 7.9 years (860 hypertensive patients ...

Date: 2018   |   Origin: Acta Médica Portuguesa

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