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Article: The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia

TitleThe HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia
Authors
Issue Date2008
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2008, v. 45 n. 11, p. 745-751 How to Cite?
AbstractBackground: Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergenic variants of HBS1L-MYB on chromosome 6q23 have recently been shown to be a major quantitative trait locus (QTL) influencing HbF levels in normal Caucasian adults. Methods: A unique and well-characterised cohort of 238 Chinese subjects with β-thalassaemia trait was used to conduct a single-nucleotide polymorphism (SNP) association study for HbF level. Results: Within this locus, 29 trait-associated SNPs in a non-coding 56 kb segment were identified. They were divided into five linkage disequilibrium (LD) blocks in the Chinese participants. Conclusions: The data independently validate for the first time the significance of the HBS1L-MYB intergenic region in regulating HbF expression in a separate ethnic group that has a high prevalence of β-thalassaemia. Functional studies to unravel the biological significance of this region in regulating HbF production is clearly indicated, which may lead to new strategies to modify the disease course of severe HBB disorders.
Persistent Identifierhttp://hdl.handle.net/10722/147592
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
ISI Accession Number ID
Funding AgencyGrant Number
Research Grant Council, Hong KongHKU 775307M
Funding Information:

Funding: This study was supported by General Research Fund Grant HKU 775307M of the Research Grant Council, Hong Kong.

References
Grants

 

DC FieldValueLanguage
dc.contributor.authorSo, CCen_US
dc.contributor.authorSong, YQen_US
dc.contributor.authorTsang, STen_US
dc.contributor.authorTang, LFen_US
dc.contributor.authorChan, AYen_US
dc.contributor.authorMa, ESen_US
dc.contributor.authorChan, LCen_US
dc.date.accessioned2012-05-29T06:04:49Z-
dc.date.available2012-05-29T06:04:49Z-
dc.date.issued2008en_US
dc.identifier.citationJournal Of Medical Genetics, 2008, v. 45 n. 11, p. 745-751en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10722/147592-
dc.description.abstractBackground: Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergenic variants of HBS1L-MYB on chromosome 6q23 have recently been shown to be a major quantitative trait locus (QTL) influencing HbF levels in normal Caucasian adults. Methods: A unique and well-characterised cohort of 238 Chinese subjects with β-thalassaemia trait was used to conduct a single-nucleotide polymorphism (SNP) association study for HbF level. Results: Within this locus, 29 trait-associated SNPs in a non-coding 56 kb segment were identified. They were divided into five linkage disequilibrium (LD) blocks in the Chinese participants. Conclusions: The data independently validate for the first time the significance of the HBS1L-MYB intergenic region in regulating HbF expression in a separate ethnic group that has a high prevalence of β-thalassaemia. Functional studies to unravel the biological significance of this region in regulating HbF production is clearly indicated, which may lead to new strategies to modify the disease course of severe HBB disorders.en_US
dc.languageengen_US
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChinaen_US
dc.subject.meshChromosomes, Human, Pair 6 - Geneticsen_US
dc.subject.meshCohort Studiesen_US
dc.subject.meshDna, Intergenic - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Hemoglobin - Genetics - Metabolismen_US
dc.subject.meshGene Expression Regulationen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPolymorphism, Single Nucleotide - Geneticsen_US
dc.subject.meshQuantitative Trait Loci - Geneticsen_US
dc.subject.meshYoung Adulten_US
dc.subject.meshBeta-Thalassemia - Geneticsen_US
dc.titleThe HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemiaen_US
dc.typeArticleen_US
dc.identifier.emailSo, CC:scc@pathology.hku.hken_US
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authoritySo, CC=rp00391en_US
dc.identifier.authoritySong, YQ=rp00488en_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1136/jmg.2008.060335en_US
dc.identifier.pmid18697826-
dc.identifier.scopuseid_2-s2.0-56049095060en_US
dc.identifier.hkuros150579en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-56049095060&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume45en_US
dc.identifier.issue11en_US
dc.identifier.spage745en_US
dc.identifier.epage751en_US
dc.identifier.eissn1468-6244-
dc.identifier.isiWOS:000260535600008-
dc.publisher.placeUnited Kingdomen_US
dc.relation.projectRole of chromosomal 6q23 region in the modulation of HbF production-
dc.identifier.scopusauthoridSo, CC=7102919978en_US
dc.identifier.scopusauthoridSong, YQ=7404921212en_US
dc.identifier.scopusauthoridTsang, ST=36838808900en_US
dc.identifier.scopusauthoridTang, LF=26021556600en_US
dc.identifier.scopusauthoridChan, AY=7403168182en_US
dc.identifier.scopusauthoridMa, ES=7202039934en_US
dc.identifier.scopusauthoridChan, LC=7403540707en_US

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