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Article: Identification of QTL genes for BMD variation using both linkage and gene-based association approaches

TitleIdentification of QTL genes for BMD variation using both linkage and gene-based association approaches
Authors
KeywordsBiomedicine
Human Genetics
Molecular Medicine
Internal Medicine
Metabolic Diseases
Issue Date2011
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 2011, v. 130 n. 4, p. 539-546 How to Cite?
AbstractLow bone mineral density (BMD) is a risk factor for osteoporotic fracture with a high heritability. Previous large scale linkage study in Northern Chinese has identified four significant quantitative trait loci (QTL) for BMD variation on chromosome 2q24, 5q21, 7p21 and 13q21. We performed a replication study of these four QTL in 1,459 Southern Chinese from 306 pedigrees. Successful replication was observed on chromosome 5q21 for femoral neck BMD with a LOD score of 1.38 (nominal p value = 0.006). We have previously identified this locus in a genome scan meta-analysis of BMD variation in a white population. Subsequent QTL-wide gene-based association analysis in 800 subjects with extreme BMD identified CAST and ERAP1 as novel BMD candidate genes (empirical p value of 0.032 and 0.014, respectively). The associations were independently replicated in a Northern European population (empirical p value of 0.01 and 0.004 for CAST and ERAP1, respectively). These findings provide further evidence that 5q21 is a BMD QTL, and CAST and ERAP1 may be associated with femoral neck BMD variation. © The Author(s) 2011.
Persistent Identifierhttp://hdl.handle.net/10722/145103
ISSN
2014 Impact Factor: 4.824
2014 SCImago Journal Rankings: 2.261
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
NSFC/GRCN-HKU-715/07
Osteoporosis Research Fund
University of Hong Kong
Funding Information:

The project is supported by NSFC/GRC Joint Research Scheme N-HKU-715/07; Osteoporosis Research Fund and Matching Grant, The University of Hong Kong. KC Wong Education Foundation.

References

 

DC FieldValueLanguage
dc.contributor.authorLi, GHYen_HK
dc.contributor.authorCheung, CLen_HK
dc.contributor.authorXiao, SMen_HK
dc.contributor.authorLau, KSen_HK
dc.contributor.authorGao, Yen_HK
dc.contributor.authorBow, CHen_HK
dc.contributor.authorHuang, QYen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorKung, AWCen_HK
dc.date.accessioned2012-02-21T05:44:43Z-
dc.date.available2012-02-21T05:44:43Z-
dc.date.issued2011en_HK
dc.identifier.citationHuman Genetics, 2011, v. 130 n. 4, p. 539-546en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145103-
dc.description.abstractLow bone mineral density (BMD) is a risk factor for osteoporotic fracture with a high heritability. Previous large scale linkage study in Northern Chinese has identified four significant quantitative trait loci (QTL) for BMD variation on chromosome 2q24, 5q21, 7p21 and 13q21. We performed a replication study of these four QTL in 1,459 Southern Chinese from 306 pedigrees. Successful replication was observed on chromosome 5q21 for femoral neck BMD with a LOD score of 1.38 (nominal p value = 0.006). We have previously identified this locus in a genome scan meta-analysis of BMD variation in a white population. Subsequent QTL-wide gene-based association analysis in 800 subjects with extreme BMD identified CAST and ERAP1 as novel BMD candidate genes (empirical p value of 0.032 and 0.014, respectively). The associations were independently replicated in a Northern European population (empirical p value of 0.01 and 0.004 for CAST and ERAP1, respectively). These findings provide further evidence that 5q21 is a BMD QTL, and CAST and ERAP1 may be associated with femoral neck BMD variation. © The Author(s) 2011.en_HK
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe Author(s)en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong Licenseen_US
dc.subjectBiomedicineen_US
dc.subjectHuman Geneticsen_US
dc.subjectMolecular Medicineen_US
dc.subjectInternal Medicineen_US
dc.subjectMetabolic Diseasesen_US
dc.titleIdentification of QTL genes for BMD variation using both linkage and gene-based association approachesen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4551/resserv?sid=springerlink&genre=article&atitle=Identification of QTL genes for BMD variation using both linkage and gene-based association approaches&title=Human Genetics&issn=03406717&date=2011-10-01&volume=130&issue=4& spage=539&authors=Gloria Hoi-Yee Li, Ching-Lung Cheung, Su-Mei Xiao, <i>et al.</i>en_US
dc.identifier.emailCheung, CL: lung1212@hku.hken_HK
dc.identifier.emailHuang, QY: qyhuang@hotmail.comen_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.authorityCheung, CL=rp01749en_HK
dc.identifier.authorityHuang, QY=rp00521en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.description.naturepublished_or_final_versionen_US
dc.identifier.doi10.1007/s00439-011-0972-2en_HK
dc.identifier.pmid21424381-
dc.identifier.pmcidPMC3178777-
dc.identifier.scopuseid_2-s2.0-80054870102en_HK
dc.identifier.hkuros186893-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-80054870102&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume130en_HK
dc.identifier.issue4en_HK
dc.identifier.spage539en_HK
dc.identifier.epage546en_HK
dc.identifier.eissn1432-1203en_US
dc.identifier.isiWOS:000295175000007-
dc.publisher.placeGermanyen_HK
dc.description.otherSpringer Open Choice, 21 Feb 2012en_US
dc.identifier.scopusauthoridLi, GHY=35080710200en_HK
dc.identifier.scopusauthoridCheung, CL=14520953400en_HK
dc.identifier.scopusauthoridXiao, SM=7402022586en_HK
dc.identifier.scopusauthoridLau, KS=35205833900en_HK
dc.identifier.scopusauthoridGao, Y=34876578200en_HK
dc.identifier.scopusauthoridBow, CH=36055977600en_HK
dc.identifier.scopusauthoridHuang, QY=7403630787en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridKung, AWC=7102322339en_HK
dc.identifier.citeulike9074232-

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