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Analysis of Genes Involved in Oxidative Stress and Iron Metabolism in Heart Failure: A Step Forward in Risk Stratification

2024-05-20Journal article Unknown
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dc.contributor.authorSilva, Pedro X.
dc.contributor.authorAguiar, Laura
dc.contributor.authorGaspar, Marcos
dc.contributor.authorFaustino, Paula
dc.contributor.authorFalcão, Luiz M.
dc.contributor.authorBarbosa, Mário
dc.contributor.authorBicho, Manuel
dc.contributor.authorInácio, Ângela
dc.date.accessioned2025-04-02T11:07:04Z
dc.date.available2025-04-02T11:07:04Z
dc.date.issued2024-05-20
dc.descriptionFree Full text ate PubMed Central: https://pmc.ncbi.nlm.nih.gov/articles/PMC11186693/
dc.description.abstractIntroduction: Heart failure (HF) is a clinical syndrome characterized by cardinal symptoms that may be accompanied by signs. It results from structural and/or functional abnormalities of the heart leading to elevated intracardiac pressures and/or inadequate cardiac output at rest and/or during exercise. The prevalence of iron deficiency and anemia justifies the current guidelines recommendation of screening. Genes HP, ACE, MTHFR, HFE, and CYBA are involved in oxidative mechanisms, iron metabolism, and hematologic homeostasis. This study investigates the contribution of variants Hp1/2 (HP), I/D (ACE), C677T (MTHFR), C282Y and H63D ( HFE), and C242T (CYBA) to the development of HF, either independently or in epistasis. Methods: We used a database of 389 individuals, 143 HF patients, and 246 healthy controls. Genotypes were characterized through PAGE electrophoresis, PCR, PCR-RFLP, and multiplex-ARMS. Data analysis was performed with the SPSS® 26.0 software (IBM Corp., Armonk, NY). Results: We observed a significant association between the MTHFR gene and HF predisposition. The presence of allele T and genotype CT constituted risk, while genotype CC granted protection. Epistatic interactions revealed risk between genotype II of the ACE gene and genotypes CC (C282Y) or HH (H63D) of the HFE gene. Risk was also observed for interactions between genotype CC (CYBA) and genotypes 2-2 (HP), CT (MTHFR), or HH (HFE-H63D). Conclusion: We concluded that genes HP, ACE, MTHFR, HFE, and CYBA contribute to the susceptibility for HF, individually or in epistasis. This study contributes to the clarification of the role that genes involved in oxidative mechanisms and iron metabolism play in the physiopathology of HF. It is, therefore, a step forward in risk stratification and personalized medicine.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCureus. 2024 May 20;16(5):e60707. doi: 10.7759/cureus.60707. eCollection 2024 May
dc.identifier.doi10.7759/cureus.60707
dc.identifier.eissn2168-8184
dc.identifier.pmid38899268
dc.identifier.urihttp://hdl.handle.net/10400.18/10463
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Nature
dc.relation.hasversionhttps://www.cureus.com/articles/212484-analysis-of-genes-involved-in-oxidative-stress-and-iron-metabolism-in-heart-failure-a-step-forward-in-risk-stratification#!/
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectEpistasis
dc.subjectGeneticspt_PT
dc.subjectHeart Failurept_PT
dc.subjectIron Metabolismpt_PT
dc.subjectOxidative Stress
dc.subjectPersonalized Medicine
dc.subjectDoenças Genéticaspt_PT
dc.subjectInsuficiência Cardíacapt_PT
dc.subjectMetabolismo do Ferropt_PT
dc.subjectFatores Genéticos Modificadorespt_PT
dc.subjectHFEpt_PT
dc.titleAnalysis of Genes Involved in Oxidative Stress and Iron Metabolism in Heart Failure: A Step Forward in Risk Stratificationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue5pt_PT
oaire.citation.startPagee60707
oaire.citation.titleCureus: Journal of Medical Science
oaire.citation.volume16pt_PT
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameFaustino
person.givenNamePaula
person.identifier.orcid0000-0002-8028-2567
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication7c5811e8-76f9-45fb-aa1f-1a7a857cd5ec
relation.isAuthorOfPublication.latestForDiscovery7c5811e8-76f9-45fb-aa1f-1a7a857cd5ec

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