Abstract:
AIM:Hemoglobinopathies exhibit a remarkable phenotypic diversity that restricts any safe association between molecular pathology and clinical outcomes. PATIENTS & METHODS:Herein, we explored the role of genes involved in the nitric oxide biosynthesis and signaling pathway, implicated in the increase of fetal hemoglobin levels and response to hydroxyurea treatment, in 119 Hellenic patients with β-type hemoglobinopathies. RESULTS:We show that two ASS1 genomic variants (namely, rs10901080 and rs10793902) can serve as pharmacogenomic biomarkers to predict hydroxyurea treatment efficacy in sickle cell disease/β-thalassemia compound heterozygous patients. CONCLUSION:These markers may exert their effect by inducing nitric oxide biosynthesis, either via altering splicing and/or miRNA binding, as predicted by in silico analysis, and ultimately, increase γ-globin levels, via guanylyl cyclase targeting.
journal_name
Pharmacogenomicsjournal_title
Pharmacogenomicsauthors
Chalikiopoulou C,Tavianatou AG,Sgourou A,Kourakli A,Kelepouri D,Chrysanthakopoulou M,Kanelaki VK,Mourdoukoutas E,Siamoglou S,John A,Symeonidis A,Ali BR,Katsila T,Papachatzopoulou A,Patrinos GPdoi
10.2217/pgs.16.1subject
Has Abstractpub_date
2016-03-01 00:00:00pages
393-403issue
4eissn
1462-2416issn
1744-8042journal_volume
17pub_type
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