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

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 t...

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Published in:Hematology, Transfusion and Cell Therapy Transfusion and Cell Therapy, 2022-04, Vol.44 (2), p.156-162
Main Authors: Torres, Flaviene F, Bernardo, Victoria S, Silva, Danilo G H, Okumura, Jéssika V, Bonini-Domingos, Claudia R
Format: Article
Language:English
Subjects:
Clinical manifestations
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Genetic polymorphism
MEDICINE, GENERAL & INTERNAL
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Summary: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. 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. We obtained higher frequencies of the wild-type homozygous (AA) and the wild-type allele (A) in the β-thal group (p 
ISSN:2531-1379
2531-1387
2531-1387
DOI:10.1016/j.htct.2020.09.147