Please use this identifier to cite or link to this item:
|Title:||KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients|
Felice, Alex E.
Stavrou, Eleana F.
IJcken, Wilfred van
Lindern, Marieke von
Grosveld, Frank G.
Patrinos, George P.
Thalassemia -- Malta
|Citation:||Borg, J., Phylactides, M., Bartsakoulia, M., Tafrali, C., Lederer, C., Felice, A. E.,...Patrinos, G. P. (2012). KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients. Pharmacogenomics, 13(13), 1487-1500.|
|Abstract:||Aim: In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood. Patients & methods: Pharmacogenomic analysis of the effects of hydroxyurea (HU) on HbF production was undertaken in a collection of Hellenic β‑thalassemia and sickle cell disease (SCD) compound heterozygotes and a collection of healthy and KLF1-haploinsufficient Maltese adults, to identify genomic signatures that follow high HbF patterns. Results: KLF10 emerged as a top candidate. Moreover, genotype analysis of β‑thalassemia major and intermedia patients and an independent cohort of β‑thalassemia/SCD compound heterozygous patients that do or do not respond to HU treatment showed that the homozygous mutant state of a tagSNP in the KLF10 3’‑UTR is not present in β‑thalassemia intermedia patients and is underrepresented in β‑thalassemia/SCD compound heterozygous patients that respond well to HU treatment. Conclusion: These data suggest that KLF10 may constitute a pharmacogenomic marker to discriminate between response and nonresponse to HU treatment.|
|Appears in Collections:||Scholarly Works - FacM&SPB|
Files in This Item:
|2.15 MB||Adobe PDF||View/Open Request a copy|
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.