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Article: Identification of QTL genes for BMD variation using both linkage and gene-based association approaches
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TitleIdentification of QTL genes for BMD variation using both linkage and gene-based association approaches
 
AuthorsLi, GHY1
Cheung, CL1
Xiao, SM1
Lau, KS1
Gao, Y1
Bow, CH1
Huang, QY1
Sham, PC1
Kung, AWC1
 
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
 
CitationHuman Genetics, 2011, v. 130 n. 4, p. 539-546 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00439-011-0972-2
 
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.
 
ISSN0340-6717
2012 Impact Factor: 4.633
2012 SCImago Journal Rankings: 1.563
 
DOIhttp://dx.doi.org/10.1007/s00439-011-0972-2
 
PubMed Central IDPMC3178777
 
ISI Accession Number IDWOS:000295175000007
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.

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLi, GHY
 
dc.contributor.authorCheung, CL
 
dc.contributor.authorXiao, SM
 
dc.contributor.authorLau, KS
 
dc.contributor.authorGao, Y
 
dc.contributor.authorBow, CH
 
dc.contributor.authorHuang, QY
 
dc.contributor.authorSham, PC
 
dc.contributor.authorKung, AWC
 
dc.date.accessioned2012-02-21T05:44:43Z
 
dc.date.available2012-02-21T05:44:43Z
 
dc.date.issued2011
 
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.
 
dc.description.naturepublished_or_final_version
 
dc.description.otherSpringer Open Choice, 21 Feb 2012
 
dc.identifier.citationHuman Genetics, 2011, v. 130 n. 4, p. 539-546 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00439-011-0972-2
 
dc.identifier.citeulike9074232
 
dc.identifier.doihttp://dx.doi.org/10.1007/s00439-011-0972-2
 
dc.identifier.eissn1432-1203
 
dc.identifier.epage546
 
dc.identifier.hkuros186893
 
dc.identifier.isiWOS:000295175000007
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.

 
dc.identifier.issn0340-6717
2012 Impact Factor: 4.633
2012 SCImago Journal Rankings: 1.563
 
dc.identifier.issue4
 
dc.identifier.openurl
 
dc.identifier.pmcidPMC3178777
 
dc.identifier.pmid21424381
 
dc.identifier.scopuseid_2-s2.0-80054870102
 
dc.identifier.spage539
 
dc.identifier.urihttp://hdl.handle.net/10722/145103
 
dc.identifier.volume130
 
dc.languageEng
 
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
dc.publisher.placeGermany
 
dc.relation.ispartofHuman Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.rightsThe Author(s)
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subjectBiomedicine
 
dc.subjectHuman Genetics
 
dc.subjectMolecular Medicine
 
dc.subjectInternal Medicine
 
dc.subjectMetabolic Diseases
 
dc.titleIdentification of QTL genes for BMD variation using both linkage and gene-based association approaches
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong