Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy.

doi:10.2217/pgs.13.31

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Article

Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy.

Pharmacogenomics - 1 Apr 2013

Tafrali Christina, Paizi Arsinoi, Borg Joseph, Radmilovic Milena, Bartsakoulia Marina, Giannopoulou Emily, Giannakopoulou Olga, Stojiljkovic-Petrovic Maja, Zukic Branka, Poulas Konstantinos, Stavrou Eleana F, Lambropoulou Polyxeni, Kourakli Alexandra, Felice Alexander E, Papachatzopoulou Adamantia, Philipsen Sjaak, Pavlovic Sonja, Georgitsi Marianthi, Patrinos George P

Abstract excerpt

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...

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PMID: 23556445
DOI: 10.2217/pgs.13.31

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KLF1

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