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

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dc.contributor.authorTorres, Flaviene F. [UNESP]
dc.contributor.authorBernardo, Victoria S. [UNESP]
dc.contributor.authorSilva, Danilo G.H. [UNESP]
dc.contributor.authorOkumura, Jéssika V.
dc.contributor.authorBonini-Domingos, Claudia R. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionNúcleo de Estudos Acadêmicos do Centro Universitário de Jales (NEA UNIJALES)
dc.date.accessioned2021-06-25T11:09:07Z
dc.date.available2021-06-25T11:09:07Z
dc.date.issued2020-01-01
dc.description.abstractIntroduction: 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.en
dc.description.affiliationInstituto de Biociências Letras e Ciências Exatas da Universidade Estadual Paulista (IBILCE UNESP)
dc.description.affiliationNúcleo de Estudos Acadêmicos do Centro Universitário de Jales (NEA UNIJALES)
dc.description.affiliationUnespInstituto de Biociências Letras e Ciências Exatas da Universidade Estadual Paulista (IBILCE UNESP)
dc.identifierhttp://dx.doi.org/10.1016/j.htct.2020.09.147
dc.identifier.citationHematology, Transfusion and Cell Therapy.
dc.identifier.doi10.1016/j.htct.2020.09.147
dc.identifier.issn2531-1387
dc.identifier.issn2531-1379
dc.identifier.lattes3279428066176719
dc.identifier.orcid0000-0002-4603-9467
dc.identifier.scopus2-s2.0-85097762573
dc.identifier.urihttp://hdl.handle.net/11449/208251
dc.language.isoeng
dc.relation.ispartofHematology, Transfusion and Cell Therapy
dc.sourceScopus
dc.subjectClinical manifestations
dc.subjectForkhead box O
dc.subjectGenetic polymorphism
dc.titleAssociation of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individualsen
dc.typeArtigo
unesp.author.lattes3279428066176719[5]
unesp.author.orcid0000-0003-4764-5896[1]
unesp.author.orcid0000-0003-3353-9056[2]
unesp.author.orcid0000-0002-5500-9403[3]
unesp.author.orcid0000-0003-2474-7849[4]
unesp.author.orcid0000-0002-4603-9467[5]

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