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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

Publisher Copyright: © 2025 Sociedade Portuguesa de Cardiologia; 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 polymorphis...


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

Sá, Débora; Mendonça, Maria Isabel; 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 ...


Validation of the SCORE2 risk prediction algorithm in a Portuguese population

Temtem, Margarida; Mendonça, Maria Isabel; Santos, Marina; Sá, Débora; Sousa, Francisco; Freitas, Sónia; Borges, Sofia; Henriques, Eva

Publisher Copyright: © 2024 Sociedade Portuguesa de Cardiologia; Introduction and Objectives: Subjects without cardiovascular (CV) disease (CVD) may suffer from subclinical atherosclerosis, and are at increased risk for atherosclerotic CV events (ASCVE). The ESC/EAS risk SCORE was updated by SCORE2, which estimates 10-year risk of fatal and non-fatal CVD in European populations aged 40–69 years without establis...


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