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Article: BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies

TitleBCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies
Authors
Sedgewick, AETimofeev, NSebastiani, PSo, JCCMa, ESKChan, LCFucharoen, GFucharoen, SBarbosa, CGVardarajan, BNFarrer, LABaldwin, CTSteinberg, MHChui, DHK
Keywordsβ-Thalassemia trait
Genetic association studies
HbE trait
HbF quantitative trait locus
Sickle cell anemia
Issue Date2008
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ybcmd
Citation
Blood Cells, Molecules, And Diseases, 2008, v. 41 n. 3, p. 255-258 How to Cite?
DOI: http://dx.doi.org/10.1016/j.bcmd.2008.06.007
AbstractIncreased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of β-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 β-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with β-thalassemia trait, and with HbF levels in Thais with either β-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. © 2008 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148584
ISSN
1079-9796
2023 Impact Factor: 2.1
2023 SCImago Journal Rankings: 0.584
ISI Accession Number ID
WOS:000260150700004
Funding AgencyGrant Number
NIDDKR01 DK069646
NHLBI R21 HL080463
R01 HL68970
R01 HL87681
U54 HL70819
Funding Information:

Supported in part by NIDDK R01 DK069646; NHLBI R21 HL080463; RO1 HL68970; R01 HL87681; U54 HL70819.

References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorSedgewick, AEen_US
dc.contributor.authorTimofeev, Nen_US
dc.contributor.authorSebastiani, Pen_US
dc.contributor.authorSo, JCCen_US
dc.contributor.authorMa, ESKen_US
dc.contributor.authorChan, LCen_US
dc.contributor.authorFucharoen, Gen_US
dc.contributor.authorFucharoen, Sen_US
dc.contributor.authorBarbosa, CGen_US
dc.contributor.authorVardarajan, BNen_US
dc.contributor.authorFarrer, LAen_US
dc.contributor.authorBaldwin, CTen_US
dc.contributor.authorSteinberg, MHen_US
dc.contributor.authorChui, DHKen_US
dc.date.accessioned2012-05-29T06:13:54Z-
dc.date.available2012-05-29T06:13:54Z-
dc.date.issued2008en_US
dc.identifier.citationBlood Cells, Molecules, And Diseases, 2008, v. 41 n. 3, p. 255-258en_US
dc.identifier.issn1079-9796en_US
dc.identifier.urihttp://hdl.handle.net/10722/148584-
dc.description.abstractIncreased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of β-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 β-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with β-thalassemia trait, and with HbF levels in Thais with either β-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. © 2008 Elsevier Inc. All rights reserved.en_US
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ybcmden_US
dc.relation.ispartofBlood Cells, Molecules, and Diseasesen_US
dc.subjectβ-Thalassemia trait-
dc.subjectGenetic association studies-
dc.subjectHbE trait-
dc.subjectHbF quantitative trait locus-
dc.subjectSickle cell anemia-
dc.subject.meshAfrican Americans - Geneticsen_US
dc.subject.meshAnemia, Sickle Cell - Genetics - Metabolismen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshCarrier Proteins - Geneticsen_US
dc.subject.meshFetal Hemoglobin - Genetics - Metabolismen_US
dc.subject.meshHemoglobinopathies - Genetics - Metabolismen_US
dc.subject.meshHumansen_US
dc.subject.meshIntronsen_US
dc.subject.meshNuclear Proteins - Geneticsen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshQuantitative Trait Locien_US
dc.subject.meshThailanden_US
dc.subject.meshBeta-Thalassemia - Genetics - Metabolismen_US
dc.titleBCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathiesen_US
dc.typeArticleen_US
dc.identifier.emailSo, JCC:scc@pathology.hku.hken_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authoritySo, JCC=rp00391en_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.bcmd.2008.06.007en_US
dc.identifier.pmid18691915-
dc.identifier.scopuseid_2-s2.0-53149150933en_US
dc.identifier.hkuros150148en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-53149150933&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume41en_US
dc.identifier.issue3en_US
dc.identifier.spage255en_US
dc.identifier.epage258en_US
dc.identifier.isiWOS:000260150700004-
dc.publisher.placeUnited Statesen_US
dc.identifier.issnl1079-9796-

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