Logo do repositório
 
Publicação

The Genetics of Iron Metabolism on Biochemical and Hematological Phenotypes of Heart Failure

2026-04-23Artigo científico Acesso aberto
Ver registo simples
datacite.subject.fosCiências Médicas
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorBarbosa, Mário
dc.contributor.authorAguiar, Laura
dc.contributor.authorMatias, Ana
dc.contributor.authorFerreira, Joana
dc.contributor.authorCaldeira, João
dc.contributor.authorMelício, Ana
dc.contributor.authorFaustino, Paula
dc.contributor.authorMenezes Falcão, Luiz
dc.contributor.authorBicho, Manuel
dc.contributor.authorInácio, Ângela
dc.date.accessioned2026-09-30T15:31:49Z
dc.date.available2026-09-30T15:31:49Z
dc.date.issued2026-04-23
dc.description(This article belongs to the Special Issue Genes and Human Diseases: 3rd Edition)
dc.description.abstractHeart failure (HF) is frequently associated with iron deficiency and anemia, negatively impacting patient outcomes. This study aimed to investigate the contribution of genetic variation in iron metabolism-related genes to biochemical and hematological phenotypes in HF. An HF population of 182 patients with functional iron deficiency (ID) and anemia was stratified by sex and heart failure subtype, including HF with reduced ejection fraction (HFrEF) and HF with non-reduced ejection fraction (HFnrEF). Genetic variants in HFE (rs1799945), SLC40A1 (rs1439816, rs2304704), and TMPRSS6 (rs855791) were evaluated. Variants in HFE and SLC40A1 were associated with differences in serum iron, ferritin, transferrin saturation, hemoglobin, and RDW. The phenotypic impact of these variants was modulated by sex and heart failure subtype, highlighting the influence of iron availability, inflammatory burden, and erythropoietic demand. In contrast, no significant associations were observed for the TMPRSS6 variant. In conclusion, genetic variation in key regulators of iron metabolism contributes to the heterogeneity of iron-related biochemical and hematological phenotypes in HF. These findings emphasize the interplay between genetic background, sex, and heart failure physiology and support the relevance of personalized approaches to iron assessment and management in heart failure.eng
dc.description.sponsorshipFunding: Mário Barbosa has received research funds from Novartis and Roche. This research was funded by regular funds of Instituto Bento da Rocha Cabral and Instituto de Saúde Ambiental; no grant was associated.
dc.identifier.citationInt J Mol Sci. 2026 Apr 23;27(9):3778. doi: 10.3390/ijms27093778
dc.identifier.doi10.3390/ijms27093778
dc.identifier.eissn1422-0067
dc.identifier.issn1661-6596
dc.identifier.pmid42123363
dc.identifier.urihttp://hdl.handle.net/10400.18/11359
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/1422-0067/27/9/3778
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectHFE
dc.subjectSLC40A1
dc.subjectTMPRSS6
dc.subjectAssociated Study
dc.subjectHeart Failure
dc.subjectIron Metabolism
dc.subjectMetabolismo do Ferro
dc.subjectFactores Genéticos Modificadores
dc.subjectDoenças Genéticas
dc.titleThe Genetics of Iron Metabolism on Biochemical and Hematological Phenotypes of Heart Failureeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue9
oaire.citation.startPage3778
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume27
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura
Nome:
Artigo 2026 Fe e IC ijms-27-03778-v2 Barbosa et al FINAL 08 05 2026.pdf
Tamanho:
467.81 KB
Formato:
Adobe Portable Document Format
Ver/Abrir
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
4.03 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

DGH - Artigos em revistas internacionais
INSA - Artigos em revistas internacionais