A carregar...
Publicação
Study of the contribution of modulators of iron homeostasis in heart failure
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 654.88 KB | Adobe PDF |
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Heart failure Ferropenic Anemia Genetic Modulation Homeostase do Ferro Doença Cardíaca HFE Polimorfismos Genéticos Metabolismo do Ferro Doenças Genéticas Modificadores Genéticos