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DGH - Posters/abstracts em congressos internacionais

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http://hdl.handle.net/10400.18/86

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Browsing DGH - Posters/abstracts em congressos internacionais by Author "Aguia, Laura"

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  • Study of the contribution of modulators of iron homeostasis in heart failure
    Publication . Matias, Ana; Santos, Mafalda; Aguia, Laura; Mascarenhas, Mário Rui; Barbosa, Mário; Melício, Ana; Menezes Falcão, Luiz; Faustino, Paula; Manuel, Bicho; Inácio, Ângela
    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 responsible for the balance of iron (Fe) metabolism, such as the HFE, SLC40A1 and TMPRSS6 genes. Aims: To investigate the contribution of common genetic variants in HFE (C282Y - rs1800562 and H63D - rs1799945), SLC40A1 (rs1439816 and rs2304704) and TMPRSS6 (rs855791) to HF. Material and Methods: The study included a population of 301 HF patients and 361 controls. The polymorphic analysis of the HFE gene variants (C282Y and H63D) was realized using the Multiplex PCR-ARMS technique, while the Endpoint Genotyping PCR technique was used for the remaining variants. Statistical analysis was done using SPSS software, version 28.0, with a statistical significance level of p<0.05. Results: Statistically significant differences were found between patients and controls, in relation to the frequency of the C282Y genotypes. The presence of the Y allele [OR (CI, 95) = 3.127 (1.223-7.995); p = 0.017] was considered a risk factor for HF development. Discussion: Based on the results obtained, the HFE gene was shown to modulate HF. This investigation not only provides a better understanding of the role of HFE in the etiology of HF and is a step forward in personalized medicine, but also underlines the importance of the iron homeostasis in HF. It proposes and reaffirms that the study of iron – related biomarkers as well as HFE common variants should be performed in patients with HF.
    2023-11Conference object Open access Show more