File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Identification of QTL genes for BMD variation using both linkage and gene-based association approaches
  • Basic View
  • Metadata View
  • XML View
TitleIdentification of QTL genes for BMD variation using both linkage and gene-based association approaches
 
AuthorsLi, GHY1
Cheung, CL1
Xiao, SM1 1
Lau, KS1
Gao, Y1
Bow, CH1
Huang, QY1
Sham, PC1
Kung, AWC1 1
 
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
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Li, GHY</contributor.author>
<contributor.author>Cheung, CL</contributor.author>
<contributor.author>Xiao, SM</contributor.author>
<contributor.author>Lau, KS</contributor.author>
<contributor.author>Gao, Y</contributor.author>
<contributor.author>Bow, CH</contributor.author>
<contributor.author>Huang, QY</contributor.author>
<contributor.author>Sham, PC</contributor.author>
<contributor.author>Kung, AWC</contributor.author>
<date.accessioned>2012-02-21T05:44:43Z</date.accessioned>
<date.available>2012-02-21T05:44:43Z</date.available>
<date.issued>2011</date.issued>
<identifier.citation>Human Genetics, 2011, v. 130 n. 4, p. 539-546</identifier.citation>
<identifier.issn>0340-6717</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/145103</identifier.uri>
<description.abstract>Low 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. &#169; The Author(s) 2011.</description.abstract>
<language>Eng</language>
<publisher>Springer Verlag. The Journal&apos;s web site is located at http://link.springer.de/link/service/journals/00439/index.htm</publisher>
<relation.ispartof>Human Genetics</relation.ispartof>
<rights>The Author(s)</rights>
<rights>Creative Commons: Attribution 3.0 Hong Kong License</rights>
<subject>Biomedicine</subject>
<subject>Human Genetics</subject>
<subject>Molecular Medicine</subject>
<subject>Internal Medicine</subject>
<subject>Metabolic Diseases</subject>
<title>Identification of QTL genes for BMD variation using both linkage and gene-based association approaches</title>
<type>Article</type>
<identifier.openurl>http://library.hku.hk:4551/resserv?sid=springerlink&amp;genre=article&amp;atitle=Identification of QTL genes for BMD variation using both linkage and gene-based association approaches&amp;title=Human Genetics&amp;issn=03406717&amp;date=2011-10-01&amp;volume=130&amp;issue=4&amp; spage=539&amp;authors=Gloria Hoi-Yee Li, Ching-Lung Cheung, Su-Mei Xiao, &lt;i&gt;et al.&lt;/i&gt;</identifier.openurl>
<description.nature>published_or_final_version</description.nature>
<identifier.doi>10.1007/s00439-011-0972-2</identifier.doi>
<identifier.pmid>21424381</identifier.pmid>
<identifier.pmcid>PMC3178777</identifier.pmcid>
<identifier.scopus>eid_2-s2.0-80054870102</identifier.scopus>
<identifier.hkuros>186893</identifier.hkuros>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-80054870102&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>130</identifier.volume>
<identifier.issue>4</identifier.issue>
<identifier.spage>539</identifier.spage>
<identifier.epage>546</identifier.epage>
<identifier.eissn>1432-1203</identifier.eissn>
<identifier.isi>WOS:000295175000007</identifier.isi>
<publisher.place>Germany</publisher.place>
<description.other>Springer Open Choice, 21 Feb 2012</description.other>
<identifier.citeulike>9074232</identifier.citeulike>
<bitstream.url>http://hub.hku.hk/bitstream/10722/145103/1/439_2011_Article_972.pdf</bitstream.url>
</item>
Author Affiliations
  1. The University of Hong Kong