Association of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individuals
Hematol., Transfus. Cell Ther. (Impr.)
; 44(2): 156-162, Apr.-June 2022. tab
Artigo
em Inglês
| LILACS
| ID: biblio-1385046
Biblioteca responsável:
BR408.1
Localização: BR408.1
ABSTRACT
Abstract Introduction 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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Talassemia beta
/
Proteína Forkhead Box O3
Tipo de estudo:
Fatores de risco
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Hematol., Transfus. Cell Ther. (Impr.)
Assunto da revista:
Hematologia
/
TransfusÆo de Sangue
Ano de publicação:
2022
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Centro Universitário de Jales - UNIJALES/BR
/
Universidade Estadual Paulista - UNESP/BR