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Article: Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women

TitleGenome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women
Authors
KeywordsAssociation
BMD
CER1
Fracture
Southern Chinese women
Issue Date2009
PublisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.html
Citation
Journal Of Bone And Mineral Research, 2009, v. 24 n. 6, p. 1013-1021 How to Cite?
AbstractBMD is a heritable trait and risk indicator for osteoporosis. In this study, we used a genome-wide haplotype association mapping (HAM) approach to identify a haplotype block within Cer1 that partitions inbred mice strains into high and low BMD groups. A cohort of 1083 high and low BMD human subjects were studied, and a nonsynonymous SNP (rs3747532) in human CER1 was identified to be associated with increased risk of both low BMD in premenopausal women (OR: 2.2; 95% CI: 1.0-4.6; p < 0.05) and increased risk of vertebral fractures (OR: 1.82, p = 0.025) in the postmenopausal cohort. We also showed that Cer1 is expressed in mouse bone and growth plate by RT-PCR, immunohistochemistry, and in situ hybridization, consistent with polymorphisms potentially influencing BMD. Our successful identification of an association with CER1 in humans together with our mouse study suggests that CER1 may play a role in the development of bone or its metabolism. Our study highlights the use of publicly available databases for rapidly surveying the genome for quantitative trait loci. © 2009 American Society for Bone and Mineral Research.
Persistent Identifierhttp://hdl.handle.net/10722/147601
ISSN
2015 Impact Factor: 5.622
2015 SCImago Journal Rankings: 2.773
ISI Accession Number ID
Funding AgencyGrant Number
Research Grant Council
University Grants Committee of Hong for KongAoE/M-04/04
Funding Information:

We thank the Genome Research Center and HPCPOWER System at Computer Centre (HKU) for technical support. This work was supported by a grant from the Research Grant Council to Y.Q.S. and a grant front the University Grants Committee of Hong for Kong (AoE/M-04/04).

References
Grants

 

DC FieldValueLanguage
dc.contributor.authorTang, PLFen_HK
dc.contributor.authorCheung, CLen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorMcClurg, Pen_HK
dc.contributor.authorLee, Ben_HK
dc.contributor.authorChan, SYen_HK
dc.contributor.authorSmith, DKen_HK
dc.contributor.authorTanner, JAen_HK
dc.contributor.authorSu, AIen_HK
dc.contributor.authorCheah, KSEen_HK
dc.contributor.authorKung, AWCen_HK
dc.contributor.authorSong, YQen_HK
dc.date.accessioned2012-05-29T06:04:53Z-
dc.date.available2012-05-29T06:04:53Z-
dc.date.issued2009en_HK
dc.identifier.citationJournal Of Bone And Mineral Research, 2009, v. 24 n. 6, p. 1013-1021en_HK
dc.identifier.issn0884-0431en_HK
dc.identifier.urihttp://hdl.handle.net/10722/147601-
dc.description.abstractBMD is a heritable trait and risk indicator for osteoporosis. In this study, we used a genome-wide haplotype association mapping (HAM) approach to identify a haplotype block within Cer1 that partitions inbred mice strains into high and low BMD groups. A cohort of 1083 high and low BMD human subjects were studied, and a nonsynonymous SNP (rs3747532) in human CER1 was identified to be associated with increased risk of both low BMD in premenopausal women (OR: 2.2; 95% CI: 1.0-4.6; p < 0.05) and increased risk of vertebral fractures (OR: 1.82, p = 0.025) in the postmenopausal cohort. We also showed that Cer1 is expressed in mouse bone and growth plate by RT-PCR, immunohistochemistry, and in situ hybridization, consistent with polymorphisms potentially influencing BMD. Our successful identification of an association with CER1 in humans together with our mouse study suggests that CER1 may play a role in the development of bone or its metabolism. Our study highlights the use of publicly available databases for rapidly surveying the genome for quantitative trait loci. © 2009 American Society for Bone and Mineral Research.en_HK
dc.languageengen_US
dc.publisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.htmlen_HK
dc.relation.ispartofJournal of Bone and Mineral Researchen_HK
dc.subjectAssociationen_HK
dc.subjectBMDen_HK
dc.subjectCER1en_HK
dc.subjectFractureen_HK
dc.subjectSouthern Chinese womenen_HK
dc.subject.meshAnimalsen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshChinaen_US
dc.subject.meshCohort Studiesen_US
dc.subject.meshCytokines - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFractures, Bone - Geneticsen_US
dc.subject.meshGenome-Wide Association Studyen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshIn Situ Hybridizationen_US
dc.subject.meshMiceen_US
dc.subject.meshMice, Inbred Strainsen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshProteins - Geneticsen_US
dc.subject.meshReverse Transcriptase Polymerase Chain Reactionen_US
dc.titleGenome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese womenen_HK
dc.typeArticleen_HK
dc.identifier.emailCheung, CL: lung1212@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailTanner, JA: jatanner@hku.hken_HK
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_HK
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.emailSong, YQ: songy@hku.hken_HK
dc.identifier.authorityCheung, CL=rp01749en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityTanner, JA=rp00495en_HK
dc.identifier.authorityCheah, KSE=rp00342en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1359/jbmr.081258en_HK
dc.identifier.pmid19113921-
dc.identifier.scopuseid_2-s2.0-66349131310en_HK
dc.identifier.hkuros152591-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-66349131310&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume24en_HK
dc.identifier.issue6en_HK
dc.identifier.spage1013en_HK
dc.identifier.epage1021en_HK
dc.identifier.eissn1523-4681-
dc.identifier.isiWOS:000266358100006-
dc.publisher.placeUnited Statesen_HK
dc.relation.projectDevelopmental genomics and skeletal research-
dc.identifier.scopusauthoridTang, PLF=16147447800en_HK
dc.identifier.scopusauthoridCheung, CL=14520953400en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridMcClurg, P=6506800082en_HK
dc.identifier.scopusauthoridLee, B=26640471500en_HK
dc.identifier.scopusauthoridChan, SY=26653358400en_HK
dc.identifier.scopusauthoridSmith, DK=7410351143en_HK
dc.identifier.scopusauthoridTanner, JA=35513993000en_HK
dc.identifier.scopusauthoridSu, AI=7005096701en_HK
dc.identifier.scopusauthoridCheah, KSE=35387746200en_HK
dc.identifier.scopusauthoridKung, AWC=7102322339en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK

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