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Article: Assessment of linkage and association of 13 genetic loci with bone mineral density

TitleAssessment of linkage and association of 13 genetic loci with bone mineral density
Authors
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
Citation
Journal Of Bone And Mineral Metabolism, 2006, v. 24 n. 3, p. 226-234 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/78674
ISSN
2015 Impact Factor: 2.312
2015 SCImago Journal Rankings: 0.775
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLau, HHLen_HK
dc.contributor.authorNg, MYMen_HK
dc.contributor.authorCheung, WMWen_HK
dc.contributor.authorPaterson, ADen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLuk, KDKen_HK
dc.contributor.authorChan, Ven_HK
dc.contributor.authorKung, AWCen_HK
dc.date.accessioned2010-09-06T07:45:29Z-
dc.date.available2010-09-06T07:45:29Z-
dc.date.issued2006en_HK
dc.identifier.citationJournal Of Bone And Mineral Metabolism, 2006, v. 24 n. 3, p. 226-234en_HK
dc.identifier.issn0914-8779en_HK
dc.identifier.urihttp://hdl.handle.net/10722/78674-
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.en_HK
dc.languageengen_HK
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/00774/index.htmen_HK
dc.relation.ispartofJournal of Bone and Mineral Metabolismen_HK
dc.subjectAssociationen_HK
dc.subjectBMDen_HK
dc.subjectCandidate genesen_HK
dc.subjectLinkageen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAgeden_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshBone Density - geneticsen_HK
dc.subject.meshCollagen Type I - geneticsen_HK
dc.subject.meshEstrogen Receptor alpha - geneticsen_HK
dc.subject.meshEstrogen Receptor beta - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGene Frequencyen_HK
dc.subject.meshGenetic Linkageen_HK
dc.subject.meshHumansen_HK
dc.subject.meshLDL-Receptor Related Proteins - geneticsen_HK
dc.subject.meshLow Density Lipoprotein Receptor-Related Protein-5en_HK
dc.subject.meshMaleen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshPedigreeen_HK
dc.subject.meshPolymorphism, Geneticen_HK
dc.subject.meshReceptors, Calcitriol - geneticsen_HK
dc.subject.meshReceptors, Calcium-Sensing - geneticsen_HK
dc.subject.meshTransforming Growth Factor beta - geneticsen_HK
dc.titleAssessment of linkage and association of 13 genetic loci with bone mineral densityen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0914-8779&volume=24&spage=226&epage=34&date=2006&atitle=Assessment+of+linkage+and+association+of+13+genetic+loci+with+bone+mineral+densityen_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLuk, KDK: hcm21000@hku.hken_HK
dc.identifier.emailChan, V: vnychana@hkucc.hku.hken_HK
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLuk, KDK=rp00333en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s00774-005-0676-6en_HK
dc.identifier.pmid16622736-
dc.identifier.scopuseid_2-s2.0-33645857079en_HK
dc.identifier.hkuros116712en_HK
dc.identifier.hkuros118431-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33645857079&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume24en_HK
dc.identifier.issue3en_HK
dc.identifier.spage226en_HK
dc.identifier.epage234en_HK
dc.identifier.isiWOS:000236956500008-
dc.publisher.placeJapanen_HK
dc.identifier.scopusauthoridLau, HHL=7201497775en_HK
dc.identifier.scopusauthoridNg, MYM=8367886400en_HK
dc.identifier.scopusauthoridCheung, WMW=7202743069en_HK
dc.identifier.scopusauthoridPaterson, AD=7202360951en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridLuk, KDK=7201921573en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridKung, AWC=7102322339en_HK

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