BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies
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| Title: | BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies |
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| Authors: | Timofeev, N, Sebastiani, P, So, JCC, Ma, ESK, Chan, LC, Fucharoen, G, Fucharoen, S, Barbosa, CG, Vardarajan, BN, Farrer, LA, Baldwin, CT, Steinberg, MH, Chui, DHK, Sedgewick, AE |
| Source: | Blood Cells, Molecules, and Diseases. 41:255-258 |
| Publisher Information: | Elsevier BV, 2008. |
| Publication Year: | 2008 |
| Subject Terms: | 0301 basic medicine, Hemoglobinopathies - Genetics - Metabolism, Quantitative Trait Loci, Anemia, Sickle Cell, Beta-Thalassemia - Genetics - Metabolism, Polymorphism, Single Nucleotide, Asian Continental Ancestry Group - Genetics, 03 medical and health sciences, Carrier Proteins - Genetics, Asian People, Anemia, Sickle Cell - Genetics - Metabolism, Fetal Hemoglobin - Genetics - Metabolism, African Americans - Genetics, Humans, Polymorphism, Fetal Hemoglobin, Nuclear Proteins - Genetics, 0303 health sciences, beta-Thalassemia, Nuclear Proteins, Anemia, Sickle Cell - Genetics - Metabolism, Single Nucleotide, Thailand, Introns, Black or African American, Hemoglobinopathies, Repressor Proteins, Carrier Proteins |
| Description: | Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of beta-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with beta-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A. |
| Document Type: | Article |
| Language: | English |
| ISSN: | 1079-9796 |
| DOI: | 10.1016/j.bcmd.2008.06.007 |
| Access URL: | https://europepmc.org/articles/pmc4100606?pdf=render https://pubmed.ncbi.nlm.nih.gov/18691915 https://www.ncbi.nlm.nih.gov/pubmed/18691915 https://www.sciencedirect.com/science/article/pii/S1079979608001411 https://core.ac.uk/display/37969727 https://hub.hku.hk/handle/10722/148584 http://www.sciencedirect.com/science/article/pii/S1079979608001411 https://pubmed.ncbi.nlm.nih.gov/18691915/ http://hdl.handle.net/10722/148584 |
| Rights: | Elsevier TDM |
| Accession Number: | edsair.doi.dedup.....86e85fbb12d92a11b520030a719c6fcd |
| Database: | OpenAIRE |
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Nájsť tento článok vo Web of Science | Abstract: | Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of beta-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with beta-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A. |
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| ISSN: | 10799796 |
| DOI: | 10.1016/j.bcmd.2008.06.007 |