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

2024Journal article Open access
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dc.contributor.authorSilva, PX
dc.contributor.authorAguiar, L
dc.contributor.authorGaspar, M
dc.contributor.authorFaustino, P
dc.contributor.authorFalcão, LM
dc.contributor.authorBarbosa, M
dc.contributor.authorBicho, M
dc.contributor.authorInácio, Â
dc.date.accessioned2024-09-15T20:53:13Z
dc.date.available2024-09-15T20:53:13Z
dc.date.issued2024
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.pt_PT
dc.identifier.doi10.7759/cureus.60707pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/52071
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectInsuficiência Cardíacapt_PT
dc.subjectStress Oxidativopt_PT
dc.subjectSobrecarga de Ferropt_PT
dc.subjectHeart Failurept_PT
dc.subjectIron Overloadpt_PT
dc.subjectOxidative Stresspt_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.titleCureuspt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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