Publication
Study of the contribution of modulators of iron homeostasis in heart failure
| dc.contributor.author | Matias, Ana | |
| dc.contributor.author | Santos, Mafalda | |
| dc.contributor.author | Aguia, Laura | |
| dc.contributor.author | Mascarenhas, Mário Rui | |
| dc.contributor.author | Barbosa, Mário | |
| dc.contributor.author | Melício, Ana | |
| dc.contributor.author | Menezes Falcão, Luiz | |
| dc.contributor.author | Faustino, Paula | |
| dc.contributor.author | Manuel, Bicho | |
| dc.contributor.author | Inácio, Ângela | |
| dc.date.accessioned | 2024-02-27T15:59:09Z | |
| dc.date.available | 2024-02-27T15:59:09Z | |
| dc.date.issued | 2023-11 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/9143 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Heart failure | pt_PT |
| dc.subject | Ferropenic Anemia | pt_PT |
| dc.subject | Genetic Modulation | pt_PT |
| dc.subject | Homeostase do Ferro | pt_PT |
| dc.subject | Doença Cardíaca | pt_PT |
| dc.subject | HFE | pt_PT |
| dc.subject | Polimorfismos Genéticos | pt_PT |
| dc.subject | Metabolismo do Ferro | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Modificadores Genéticos | pt_PT |
| dc.title | Study of the contribution of modulators of iron homeostasis in heart failure | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | 27st Anual Meeting of the Portuguese Society of Human Genetics, 23-25 November 2023 | pt_PT |
| person.familyName | Faustino | |
| person.givenName | Paula | |
| person.identifier.ciencia-id | F01A-353A-433E | |
| person.identifier.orcid | 0000-0002-6269-4867 | |
| person.identifier.rid | M-3519-2014 | |
| person.identifier.scopus-author-id | 8158641100 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isAuthorOfPublication | 94303e78-8b7d-4e24-811d-3af3b1a4e330 | |
| relation.isAuthorOfPublication.latestForDiscovery | 94303e78-8b7d-4e24-811d-3af3b1a4e330 |