A SINGLE NUCLEOTIDE POLYMORPHISM IN THE HBBP1 GENE IN THE HUMAN beta-GLOBIN LOCUS IS ASSOCIATED WITH A MILD beta-THALASSEMIA DISEASE PHENOTYPE
| Autor: | Alexandra Kourakli, Marianthi Georgitsi, Emily Giannopoulou, George P. Patrinos, Konstantinos Poulas, Adamantia Papachatzopoulou, Christina Tafrali, Marina Bartsakoulia, Eleana F. Stavrou |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Genotype
Genetic Linkage Thalassemia Clinical Biochemistry Single-nucleotide polymorphism beta-Globins Biology Polymorphism Single Nucleotide Severity of Illness Index 03 medical and health sciences 0302 clinical medicine Gene Frequency Human β-globin locus medicine Humans Hydroxyurea Allele Allele frequency Alleles Genetic Association Studies Genetics (clinical) 030304 developmental biology 0303 health sciences beta-Thalassemia Biochemistry (medical) Beta thalassemia Hematology medicine.disease Phenotype Molecular biology 3. Good health Treatment Outcome Genetic Loci 030220 oncology & carcinogenesis Pseudogenes |
| Zdroj: | Hemoglobin; Vol 36 |
| ISSN: | 1532-432X |
| DOI: | 10.3109/03630269.2012.717515 |
| Popis: | The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with a milder disease phenotype in Asian β(0)-thalassemia/hemoglobin (Hb) E (β(0)-thal/Hb E [β26(B8)Glu→Lys, GAG>AAG]) patients. In this study, we aimed to explore the possible association of rs2071348 with β-thalassemia (β-thal) disease severity in a group of β-thal major (β-TM) patients (severe phenotype) and β-thal intermedia (β-TI) patients (mild phenotype) of Hellenic origin and compare the results with normal (non thalassemic) individuals of the same origin. In addition, we explored whether this single nucleotide polymorphism (SNP) can be exploited as a pharmacogenomic marker to predict the outcome of Hb F-augmenting therapy in β-thal patients receiving hydroxyurea (HU). Our data suggest that the rs2071348 polymorphism is associated with higher Hb F levels and a milder β-thal disease phenotype. However, the rs2071348 polymorphism in the HBBP1 gene does not correlate with response to HU treatment. |
| Databáze: | OpenAIRE |
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