Δημοσίευση

KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients.

ΤίτλοςKLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients.
Publication TypeJournal Article
Year of Publication2012
AuthorsBorg, J., Phylactides M., Bartsakoulia M., Tafrali C., Lederer C., Felice A. E., Papachatzopoulou A., Kourakli A., Stavrou E. F., Christou S., Hou J., Karkabouna S., Lappa-Manakou C., Ozgür Z., van Ijcken W., von Lindern M., Grosveld F. G., Georgitsi M., Kleanthous M., Philipsen S., & Patrinos G. P.
JournalPharmacogenomics
Volume13
Issue13
Pagination1487-500
Date Published2012 Oct
ISSN1744-8042
Λέξεις κλειδιά3' Untranslated Regions, Adult, Anemia, Sickle Cell, Antisickling Agents, beta-Thalassemia, Early Growth Response Transcription Factors, Erythroid Precursor Cells, Female, Fetal Hemoglobin, Gene Expression, Genetic Markers, Hemoglobinopathies, Heterozygote, Humans, Hydroxyurea, Kruppel-Like Transcription Factors, Male, Polymorphism, Single Nucleotide, Retrospective Studies, Transcriptome
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.
DOI10.2217/pgs.12.125
Alternate JournalPharmacogenomics
PubMed ID23057549

Επικοινωνία

Τμήμα Ιατρικής, Πανεπιστημιούπολη ΑΠΘ, T.K. 54124, Θεσσαλονίκη
 

Συνδεθείτε

Το τμήμα Ιατρικής στα κοινωνικά δίκτυα.
Ακολουθήστε μας ή συνδεθείτε μαζί μας.

           

Σύνδεσμοι

 

Το πανεπιστήμιο

 
 

Προσωπικό & Φοιτητές