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
Article
Dans Anglais
| LILACS
| ID: biblio-1385046
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Bêta-Thalassémie
/
Protéine O3 à motif en tête de fourche
Type d'étude:
Facteurs de risque
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Hematol., Transfus. Cell Ther. (Impr.)
Thème du journal:
Hematologia
/
TransfusÆo de Sangue
Année:
2022
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Centro Universitário de Jales - UNIJALES/BR
/
Universidade Estadual Paulista - UNESP/BR
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS