Association of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individuals

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Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorNúcleo de Estudos Acadêmicos do Centro Universitário de Jales (NEA UNIJALES)-
Autor(es): dc.creatorTorres, Flaviene F. [UNESP]-
Autor(es): dc.creatorBernardo, Victoria S. [UNESP]-
Autor(es): dc.creatorSilva, Danilo G.H. [UNESP]-
Autor(es): dc.creatorOkumura, Jéssika V.-
Autor(es): dc.creatorBonini-Domingos, Claudia R. [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:52:51Z-
Data de disponibilização: dc.date.available2022-02-22T00:52:51Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2019-12-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.htct.2020.09.147-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/208251-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/208251-
Descrição: dc.descriptionIntroduction: Studies have shown that the loss of the FOXO3 transcriptional function is involved in the pathophysiology of some chronic erythroid disorders, including beta-thalassemia (β-thal). Therefore, the single nucleotide polymorphism (SNP) rs3800231 (35-2764A > G) could contribute to alterations in its transcriptional activity, acting as a modifier of β-thal phenotypic manifestations. Objective and method: In order to better understand the genotypic and/or allelic distributions among β-thal patients, we evaluated 83 β-thal heterozygous and 20 homozygous, compared to 117 individuals without hemoglobinopathies (control group). Additionally, we verified any influence of the FOXO3 polymorphism on clinical manifestations among β-thal homozygotes. Results: We obtained higher frequencies of the wild-type homozygous (AA) and the wild-type allele (A) in the β-thal group (p < 0.0001 and p = 0.00014, respectively). The most common clinical manifestations found among β-thal homozygotes were iron overload (90%), splenomegaly (65%) and bone complications (35%), e.g., osteopenia/osteoporosis. We observed that close to 80% of the patients presenting such manifestations had the genotype AA. However, we did not find any significant involvement of the FOXO3 polymorphism in clinical manifestation occurrences. Conclusion: Thus, we concluded that the SNP rs3800231 did not play a significant role as a modifier of the clinical manifestations observed in the β-thal homozygotes studied.-
Descrição: dc.descriptionInstituto de Biociências Letras e Ciências Exatas da Universidade Estadual Paulista (IBILCE UNESP)-
Descrição: dc.descriptionNúcleo de Estudos Acadêmicos do Centro Universitário de Jales (NEA UNIJALES)-
Descrição: dc.descriptionInstituto de Biociências Letras e Ciências Exatas da Universidade Estadual Paulista (IBILCE UNESP)-
Idioma: dc.languageen-
Relação: dc.relationHematology, Transfusion and Cell Therapy-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectClinical manifestations-
Palavras-chave: dc.subjectForkhead box O-
Palavras-chave: dc.subjectGenetic polymorphism-
Título: dc.titleAssociation of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individuals-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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