ArticleBMC medical genetics2017
An Aγ-globin G->A gene polymorphism associated with β
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.International journal of molecular sciences · 2024Review
- Article
- Review
- The rs368698783 (G>A) Polymorphism Affecting LYAR Binding to the Aγ-Globin Gene Is Associated with High Fetal Hemoglobin (HbF) in β-Thalassemia Erythroid Precursor Cells Treated with HbF InducersInternational journal of molecular sciences · 2023Article
- Article
- Treatment of Erythroid Precursor Cells from β-Thalassemia Patients withInternational journal of molecular sciences · 2021Article
- Efficient CRISPR-Cas9-based genome editing of β-globin gene on erythroid cells from homozygous βMolecular therapy. Methods & clinical development · 2021Article
- [Rare thalassemia caused by novel nucleotide variants in the globin gene: four case reports and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2021Review
- High level of fetal-globin reactivation by designed transcriptional activator-like effector.Blood advances · 2020Article
- EF Bart's Disease with Coinheritance of GCase reports in hematology · 2020Article
- MicroRNAs and Long Non-coding RNAs in Genetic Diseases.Molecular diagnosis & therapy · 2019Review
- CARM1-mediated methylation of protein arginine methyltransferase 5 represses human γ-globin gene expression in erythroleukemia cells.The Journal of biological chemistry · 2018Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIncrease of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).
methodsAγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β
resultsThe results show that the rs368698783 polymorphism is present in β-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G->A) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the β
conclusionsAs a potential explanation of our findings, we hypothesize that in β-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G->A) genotype is frequently under genetic linkage with β
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