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Table 1 List of the currently available studies unrevealing the correlation of specific genes and genomic variants with hydroxyurea treatment efficacy. Findings were obtained using search engines databases such as PubMed Central (PMC-NCBI), dbSNP [76], and based on findings from our previous work [25, 69]

From: Genome-based therapeutic interventions for β-type hemoglobinopathies

Disease N of patients Ancestry Gene(s) dbSNP rsID Location Reference
SCA 137 African American HAO2
MAP3K5
MAP3K5
TOX
TOX
TOX
TOX
TOX
NOS1
NOS1
FLT1
FLT1
FLT1
ARG2
ARG2
NOS2A
NOS2A
rs10494225rs9376230rs9483947 rs826729 rs765587 rs9693712 rs172652 rs380620 rs816361 rs7977109 rs9319428 rs2182008 rs8002446 rs10483801 rs10483802 rs1137933 rs944725 Untranslated
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Intronic
Synonymous
Intronic
[68]
TDT, NTDT,
Hb S/β-Thal
87 Hellenic MAP3K5
NOS2A
ARG2
STR 5’-GCGCG-3’
rs944725
rs10483801
Promoter
Intronic
Intronic
[69]
β-thal major, Intermedia,
Hb S/β-Thal
138 Hellenic MAP3K5
MAP3K5
rs9483947 rs9376230 Intronic
Intronic
[88]
β-thal major, Intermedia,
Hb S/β-Thal
143 Hellenic KLF10 rs3191333 3´‑UTR [70]
β-thal major, Intermedia,
SCD
75 Egyptian KLF10 rs3191333 3’-UTR [71]
β-thal major, NTDT,
Hb S/β-Thal
165 Hellenic SIN3A rs7166737 Intronic [71]
β-thal major, NTDT,
Hb S/β-Thal
210 Hellenic KLF4 rs2236599 Non-coding transcript exon variant [63]
β-thal major, Intermedia 79 Western Indian HBG2 XmnI polymorphism promoter [83]
SCD 150 N/A HBG2 XmnI polymorphism promoter [76]
β-thal major 45 N/A HBG2 XmnI polymorphism promoter [77]
β-thal major 133 Iranian HBG2
HBB
XmnI polymorphism promoter [78]
β-thal major 143 N/A HBG2 XmnI polymorphism promoter [79]
β-thal major 54 Algerian HBG2 XmnI polymorphism promoter [80]
β-thal major 18 N/A HBG2 XmnI polymorphism promoter [81]
β-thal intermedia 37 N/A HBG2 XmnI polymorphism promoter [82]
β-thal major/intermedia 81 Iranian HBG2 XmnI polymorphism promoter [85]
  1. N/A Not applicable, NTDT Non-Transfusion dependent thalassemia, TDT Transfusion dependent thalassemia, SCD Sickle cell disease, SCA Sickle cell anemia, Hb S/β-Thal compound heterozygous condition