File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Assessment of linkage and association of 13 genetic loci with bone mineral density
  • Basic View
  • Metadata View
  • XML View
TitleAssessment of linkage and association of 13 genetic loci with bone mineral density
 
AuthorsLau, HHL2
Ng, MYM2
Cheung, WMW2
Paterson, AD4 3
Sham, PC2 1
Luk, KDK2
Chan, V2
Kung, AWC2
 
KeywordsAssociation
BMD
Candidate genes
Linkage
 
Issue Date2006
 
PublisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/00774/index.htm
 
CitationJournal Of Bone And Mineral Metabolism, 2006, v. 24 n. 3, p. 226-234 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00774-005-0676-6
 
AbstractBone mineral density (BMD), an important risk factor for osteoporosis, is a complex trait likely affected by multiple genes. The linkage and/or association of 13 polymorphic loci of seven candidate genes (estrogen receptor alpha [ERα] and beta [ERβ], calcium-sensing receptor, vitamin D receptor, collagen type 1α1, low-density lipoprotein [LDL] receptor-related protein 5 [LRPS], and transforming growth factor β1) were evaluated in 177 southern Chinese pedigrees of 674 subjects, with each pedigree identified through a proband having a BMD Z score of -1.28 or less at the hip or spine. A suggestive linkage was detected between the IVS1-351A/G polymorphism of ERα and spine BMD, and between the 1082G/A, 1730G/A, and D14S1026 polymorphisms of ERβ and BMD at both spine and hip. The quantitative transmission disequilibrium test (QTDT) detected total family association between 1730G/A of ERβ and BMD at spine and hip; between D14S1026 of ERβ and hip BMD; and between the 266A/G and 2220C/T polymorphisms of LRP5 and hip BMD. Similar total family associations were detected when only the females were analyzed. In addition, the IVS1-397T/C polymorphism of ERα was associated with spine BMD, and the 266A/G and 2220C/T polymorphisms of LRP5 were associated with femoral neck BMD in the females. A within-family association was detected with the IVS1-397T/C polymorphism of ERα, and the 266A/G and 2220C/T polymorphisms of LRP5 in the females. The effect of each polymorphism on BMD variance ranged from 1% to 4%. In conclusion, ERα, ERβ and LRP5 are important candidate genes determining BMD variation, especially in females. © Springer-Verlag 2006.
 
ISSN0914-8779
2013 Impact Factor: 2.114
 
DOIhttp://dx.doi.org/10.1007/s00774-005-0676-6
 
ISI Accession Number IDWOS:000236956500008
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLau, HHL
 
dc.contributor.authorNg, MYM
 
dc.contributor.authorCheung, WMW
 
dc.contributor.authorPaterson, AD
 
dc.contributor.authorSham, PC
 
dc.contributor.authorLuk, KDK
 
dc.contributor.authorChan, V
 
dc.contributor.authorKung, AWC
 
dc.date.accessioned2010-09-06T07:45:29Z
 
dc.date.available2010-09-06T07:45:29Z
 
dc.date.issued2006
 
dc.description.abstractBone mineral density (BMD), an important risk factor for osteoporosis, is a complex trait likely affected by multiple genes. The linkage and/or association of 13 polymorphic loci of seven candidate genes (estrogen receptor alpha [ERα] and beta [ERβ], calcium-sensing receptor, vitamin D receptor, collagen type 1α1, low-density lipoprotein [LDL] receptor-related protein 5 [LRPS], and transforming growth factor β1) were evaluated in 177 southern Chinese pedigrees of 674 subjects, with each pedigree identified through a proband having a BMD Z score of -1.28 or less at the hip or spine. A suggestive linkage was detected between the IVS1-351A/G polymorphism of ERα and spine BMD, and between the 1082G/A, 1730G/A, and D14S1026 polymorphisms of ERβ and BMD at both spine and hip. The quantitative transmission disequilibrium test (QTDT) detected total family association between 1730G/A of ERβ and BMD at spine and hip; between D14S1026 of ERβ and hip BMD; and between the 266A/G and 2220C/T polymorphisms of LRP5 and hip BMD. Similar total family associations were detected when only the females were analyzed. In addition, the IVS1-397T/C polymorphism of ERα was associated with spine BMD, and the 266A/G and 2220C/T polymorphisms of LRP5 were associated with femoral neck BMD in the females. A within-family association was detected with the IVS1-397T/C polymorphism of ERα, and the 266A/G and 2220C/T polymorphisms of LRP5 in the females. The effect of each polymorphism on BMD variance ranged from 1% to 4%. In conclusion, ERα, ERβ and LRP5 are important candidate genes determining BMD variation, especially in females. © Springer-Verlag 2006.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationJournal Of Bone And Mineral Metabolism, 2006, v. 24 n. 3, p. 226-234 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s00774-005-0676-6
 
dc.identifier.doihttp://dx.doi.org/10.1007/s00774-005-0676-6
 
dc.identifier.epage234
 
dc.identifier.hkuros116712
 
dc.identifier.isiWOS:000236956500008
 
dc.identifier.issn0914-8779
2013 Impact Factor: 2.114
 
dc.identifier.issue3
 
dc.identifier.openurl
 
dc.identifier.pmid16622736
 
dc.identifier.scopuseid_2-s2.0-33645857079
 
dc.identifier.spage226
 
dc.identifier.urihttp://hdl.handle.net/10722/78674
 
dc.identifier.volume24
 
dc.languageeng
 
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/00774/index.htm
 
dc.publisher.placeJapan
 
dc.relation.ispartofJournal of Bone and Mineral Metabolism
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdult
 
dc.subject.meshAged
 
dc.subject.meshAsian Continental Ancestry Group - genetics
 
dc.subject.meshBone Density - genetics
 
dc.subject.meshCollagen Type I - genetics
 
dc.subject.meshEstrogen Receptor alpha - genetics
 
dc.subject.meshEstrogen Receptor beta - genetics
 
dc.subject.meshFemale
 
dc.subject.meshGene Frequency
 
dc.subject.meshGenetic Linkage
 
dc.subject.meshHumans
 
dc.subject.meshLDL-Receptor Related Proteins - genetics
 
dc.subject.meshLow Density Lipoprotein Receptor-Related Protein-5
 
dc.subject.meshMale
 
dc.subject.meshMiddle Aged
 
dc.subject.meshPedigree
 
dc.subject.meshPolymorphism, Genetic
 
dc.subject.meshReceptors, Calcitriol - genetics
 
dc.subject.meshReceptors, Calcium-Sensing - genetics
 
dc.subject.meshTransforming Growth Factor beta - genetics
 
dc.subjectAssociation
 
dc.subjectBMD
 
dc.subjectCandidate genes
 
dc.subjectLinkage
 
dc.titleAssessment of linkage and association of 13 genetic loci with bone mineral density
 
dc.typeArticle
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Lau, HHL</contributor.author>
<contributor.author>Ng, MYM</contributor.author>
<contributor.author>Cheung, WMW</contributor.author>
<contributor.author>Paterson, AD</contributor.author>
<contributor.author>Sham, PC</contributor.author>
<contributor.author>Luk, KDK</contributor.author>
<contributor.author>Chan, V</contributor.author>
<contributor.author>Kung, AWC</contributor.author>
<date.accessioned>2010-09-06T07:45:29Z</date.accessioned>
<date.available>2010-09-06T07:45:29Z</date.available>
<date.issued>2006</date.issued>
<identifier.citation>Journal Of Bone And Mineral Metabolism, 2006, v. 24 n. 3, p. 226-234</identifier.citation>
<identifier.issn>0914-8779</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/78674</identifier.uri>
<description.abstract>Bone mineral density (BMD), an important risk factor for osteoporosis, is a complex trait likely affected by multiple genes. The linkage and/or association of 13 polymorphic loci of seven candidate genes (estrogen receptor alpha [ER&#945;] and beta [ER&#946;], calcium-sensing receptor, vitamin D receptor, collagen type 1&#945;1, low-density lipoprotein [LDL] receptor-related protein 5 [LRPS], and transforming growth factor &#946;1) were evaluated in 177 southern Chinese pedigrees of 674 subjects, with each pedigree identified through a proband having a BMD Z score of -1.28 or less at the hip or spine. A suggestive linkage was detected between the IVS1-351A/G polymorphism of ER&#945; and spine BMD, and between the 1082G/A, 1730G/A, and D14S1026 polymorphisms of ER&#946; and BMD at both spine and hip. The quantitative transmission disequilibrium test (QTDT) detected total family association between 1730G/A of ER&#946; and BMD at spine and hip; between D14S1026 of ER&#946; and hip BMD; and between the 266A/G and 2220C/T polymorphisms of LRP5 and hip BMD. Similar total family associations were detected when only the females were analyzed. In addition, the IVS1-397T/C polymorphism of ER&#945; was associated with spine BMD, and the 266A/G and 2220C/T polymorphisms of LRP5 were associated with femoral neck BMD in the females. A within-family association was detected with the IVS1-397T/C polymorphism of ER&#945;, and the 266A/G and 2220C/T polymorphisms of LRP5 in the females. The effect of each polymorphism on BMD variance ranged from 1% to 4%. In conclusion, ER&#945;, ER&#946; and LRP5 are important candidate genes determining BMD variation, especially in females. &#169; Springer-Verlag 2006.</description.abstract>
<language>eng</language>
<publisher>Springer Japan. The Journal&apos;s web site is located at http://link.springer.de/link/service/journals/00774/index.htm</publisher>
<relation.ispartof>Journal of Bone and Mineral Metabolism</relation.ispartof>
<subject>Association</subject>
<subject>BMD</subject>
<subject>Candidate genes</subject>
<subject>Linkage</subject>
<subject.mesh>Adult</subject.mesh>
<subject.mesh>Aged</subject.mesh>
<subject.mesh>Asian Continental Ancestry Group - genetics</subject.mesh>
<subject.mesh>Bone Density - genetics</subject.mesh>
<subject.mesh>Collagen Type I - genetics</subject.mesh>
<subject.mesh>Estrogen Receptor alpha - genetics</subject.mesh>
<subject.mesh>Estrogen Receptor beta - genetics</subject.mesh>
<subject.mesh>Female</subject.mesh>
<subject.mesh>Gene Frequency</subject.mesh>
<subject.mesh>Genetic Linkage</subject.mesh>
<subject.mesh>Humans</subject.mesh>
<subject.mesh>LDL-Receptor Related Proteins - genetics</subject.mesh>
<subject.mesh>Low Density Lipoprotein Receptor-Related Protein-5</subject.mesh>
<subject.mesh>Male</subject.mesh>
<subject.mesh>Middle Aged</subject.mesh>
<subject.mesh>Pedigree</subject.mesh>
<subject.mesh>Polymorphism, Genetic</subject.mesh>
<subject.mesh>Receptors, Calcitriol - genetics</subject.mesh>
<subject.mesh>Receptors, Calcium-Sensing - genetics</subject.mesh>
<subject.mesh>Transforming Growth Factor beta - genetics</subject.mesh>
<title>Assessment of linkage and association of 13 genetic loci with bone mineral density</title>
<type>Article</type>
<identifier.openurl>http://library.hku.hk:4550/resserv?sid=HKU:IR&amp;issn=0914-8779&amp;volume=24&amp;spage=226&amp;epage=34&amp;date=2006&amp;atitle=Assessment+of+linkage+and+association+of+13+genetic+loci+with+bone+mineral+density</identifier.openurl>
<description.nature>link_to_subscribed_fulltext</description.nature>
<identifier.doi>10.1007/s00774-005-0676-6</identifier.doi>
<identifier.pmid>16622736</identifier.pmid>
<identifier.scopus>eid_2-s2.0-33645857079</identifier.scopus>
<identifier.hkuros>116712</identifier.hkuros>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-33645857079&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>24</identifier.volume>
<identifier.issue>3</identifier.issue>
<identifier.spage>226</identifier.spage>
<identifier.epage>234</identifier.epage>
<identifier.isi>WOS:000236956500008</identifier.isi>
<publisher.place>Japan</publisher.place>
</item>
Author Affiliations
  1. King's College London
  2. The University of Hong Kong
  3. University of Toronto
  4. Hospital for Sick Children University of Toronto