Genome-based therapeutic interventions for β-type hemoglobinopathies

Karamperis, Kariofyllis; Tsoumpeli, Maria T.; Kounelis, Fotios; Koromina, Maria; Mitropoulou, Christina; Moutinho, Catia; Patrinos, George P.

doi:10.1186/s40246-021-00329-0

Human Genomics

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]

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

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ISSN: 1479-7364

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