Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy.
Title | Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | Tafrali, C., Paizi A., Borg J., Radmilovic M., Bartsakoulia M., Giannopoulou E., Giannakopoulou O., Stojiljkovic-Petrovic M., Zukic B., Poulas K., Stavrou E. F., Lambropoulou P., Kourakli A., Felice A. E., Papachatzopoulou A., Philipsen S., Pavlovic S., Georgitsi M., & Patrinos G. P. |
Journal | Pharmacogenomics |
Volume | 14 |
Issue | 5 |
Pagination | 469-83 |
Date Published | 2013 Apr |
ISSN | 1744-8042 |
Keywords | beta-Thalassemia, Biomarkers, Pharmacological, Gene Expression Regulation, Genetic Association Studies, Humans, Hydroxyurea, MAP Kinase Kinase Kinase 5, Microsatellite Repeats, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, RNA, Messenger |
Abstract | AIM: In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in β-hemoglobinopathy patients, as well as the association between these variants with response to hydroxyurea (HU) treatment. Furthermore, we examined MAP3K5 expression in the context of high fetal hemoglobin (HbF) and upon HU treatment in erythroid progenitor cells from healthy and KLF1 haploinsufficient individuals. |
DOI | 10.2217/pgs.13.31 |
Alternate Journal | Pharmacogenomics |
PubMed ID | 23556445 |