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Conference Paper: Test of linkage and association of 14 genetic loci with bone size

TitleTest of linkage and association of 14 genetic loci with bone size
Authors
Issue Date2005
PublisherJohn Wiley & Sons, Inc.
Citation
The 27th Annual Meeting of the American Society for Bone and Mineral Research, Nashville, TN, 23-27 September 2005. In Journal of Bone and Mineral Research, 2005, v. 20 n. S1, Abstract no. SA111 How to Cite?
AbstractBone size is an important independent contributor to bone strength, a determinant of osteoporotic fracture. To evaluate the genetic determinants of bone size, linkage and/or association of 14 polymorphic loci of 8 candidate genes were studied in 177 southern Chinese pedigrees of 674 subjects (567 females and 107 males). Four skeletal sites were studied, including the LI-4 lumbar spine, trochanter, femoral neck and total hip region. Age, sex, height and weight were included as covariates in the analysis. The candidate genes studied include estrogen receptor alpha (ERα) and beta (ERβ), calcium sensing receptor (CASR), vitamin D receptor (VDR), collagen type Iα1 (COLIA1), LDL receptor-related protein 5 (LRP5), transforming growth factor β1 (TGF β), and parathyroid hormone receptor 1 (PTHR1). Multi-point variance component linkage analysis was performed using the MERLIN program. Linkage was observed between D14S1026 genotypes of ERβ with total hip area; CASR genotypes with femoral neck bone area; 266A/G, 2220C/T and 3989C/T genotypes of LRP5 with total hip bone area. Association of bone size was determined using the quantitative transmission disequilibrium test (QTDT). After covariates adjustment, total family association revealed significant association of D14S1026 genotypes of ERβ with spine, trochanter and total hip bone area; D3S1289 genotypes with femoral neck, trochanter and hip region bone area; and CASR genotype with femoral neck and total hip bone area. These results were also seen when only the females were studied. In addition, 2T/C of VDR was associated with spine bone area in all subjects while 266A/G of LRP5 was associated with total hip bone area when the females were analysed separately. When all subjects were analysed, significant within-family association was detected between D14S1026 genotypes of ERβ with spine bone area. Overall, these data suggested ERβ, CASR and LRP5 are important candidate genes for determining bone size variation. In addition, VDR gene and D3S1289 may also contribute to bone size variation.
Persistent Identifierhttp://hdl.handle.net/10722/102695
ISSN

 

DC FieldValueLanguage
dc.contributor.authorLau, HLen_HK
dc.contributor.authorNg, MYMen_HK
dc.contributor.authorJin, Len_HK
dc.contributor.authorPaterson, Aen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLuk, KDKen_HK
dc.contributor.authorChan, VNYen_HK
dc.contributor.authorKung, AWCen_HK
dc.date.accessioned2010-09-25T20:41:04Z-
dc.date.available2010-09-25T20:41:04Z-
dc.date.issued2005en_HK
dc.identifier.citationThe 27th Annual Meeting of the American Society for Bone and Mineral Research, Nashville, TN, 23-27 September 2005. In Journal of Bone and Mineral Research, 2005, v. 20 n. S1, Abstract no. SA111-
dc.identifier.issn1523-4681-
dc.identifier.urihttp://hdl.handle.net/10722/102695-
dc.description.abstractBone size is an important independent contributor to bone strength, a determinant of osteoporotic fracture. To evaluate the genetic determinants of bone size, linkage and/or association of 14 polymorphic loci of 8 candidate genes were studied in 177 southern Chinese pedigrees of 674 subjects (567 females and 107 males). Four skeletal sites were studied, including the LI-4 lumbar spine, trochanter, femoral neck and total hip region. Age, sex, height and weight were included as covariates in the analysis. The candidate genes studied include estrogen receptor alpha (ERα) and beta (ERβ), calcium sensing receptor (CASR), vitamin D receptor (VDR), collagen type Iα1 (COLIA1), LDL receptor-related protein 5 (LRP5), transforming growth factor β1 (TGF β), and parathyroid hormone receptor 1 (PTHR1). Multi-point variance component linkage analysis was performed using the MERLIN program. Linkage was observed between D14S1026 genotypes of ERβ with total hip area; CASR genotypes with femoral neck bone area; 266A/G, 2220C/T and 3989C/T genotypes of LRP5 with total hip bone area. Association of bone size was determined using the quantitative transmission disequilibrium test (QTDT). After covariates adjustment, total family association revealed significant association of D14S1026 genotypes of ERβ with spine, trochanter and total hip bone area; D3S1289 genotypes with femoral neck, trochanter and hip region bone area; and CASR genotype with femoral neck and total hip bone area. These results were also seen when only the females were studied. In addition, 2T/C of VDR was associated with spine bone area in all subjects while 266A/G of LRP5 was associated with total hip bone area when the females were analysed separately. When all subjects were analysed, significant within-family association was detected between D14S1026 genotypes of ERβ with spine bone area. Overall, these data suggested ERβ, CASR and LRP5 are important candidate genes for determining bone size variation. In addition, VDR gene and D3S1289 may also contribute to bone size variation.-
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc.-
dc.relation.ispartofJournal of Bone and Mineral Researchen_HK
dc.titleTest of linkage and association of 14 genetic loci with bone sizeen_HK
dc.typeConference_Paperen_HK
dc.identifier.emailNg, MYM: yikmanng@yahoo.comen_HK
dc.identifier.emailSham, PC: pcsham@HKUCC.hku.hken_HK
dc.identifier.emailLuk, KDK: hrmoldk@hkucc.hku.hken_HK
dc.identifier.emailChan, VNY: 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, VNY=rp00320en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/jbmr.5650201304-
dc.identifier.hkuros112609en_HK

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