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Article: Tests of linkage and/or association of TGF-β1 and COL1A1 genes with bone mass

TitleTests of linkage and/or association of TGF-β1 and COL1A1 genes with bone mass
Authors
Issue Date2005
PublisherSpringer U K. The Journal's web site is located at http://www.springer.com/medicine/orthopedics/journal/198
Citation
Osteoporosis International, 2005, v. 16 n. 1, p. 86-92 How to Cite?
AbstractTransforming growth factor beta 1 (TGF-β1) is involved in bone metabolism and collagen type I alpha 1 (COL1A1) is the most abundant protein of bone matrix. Both have been considered as candidate genes for osteoporosis. In this study, we employed the transmission disequilibrium test (TDT) to examine the relationship between each of the two genes with bone mineral density (BMD) and bone mineral content (BMC) at the spine and hip in a sample of 1668 subjects from 387 Caucasian nuclear families. For the TGF-β1 gene, three SNPs, SNP1, SNP2, and SNP4 (located in exon 1, intron 4 and intron 5, respectively) were tested and the minor allele frequencies were 30.9%, 2.1% and 27.0%, respectively. All eight possible haplotypes (TGF1-8) were observed. For the COL1A1 gene, the minor allele frequencies of SNP5, SNP6 and SNP8 (located in exon 1, intron 1, and exon 45, respectively) were 15.2%, 18.7%, 2.0%, respectively, and only six of eight potential haplotypes (COL1-6) were obtained. In the whole sample, total associations were observed between haplotype COL5 with spine BMD (P = 0.027), haplotypes COL3 and TGF4 with hip BMC (P = 0.002, 0.003, respectively). Within-family associations were found for spine BMD at haplotypes TGF4 (P = 0.027) in female offspring families and TGF3 (P = 0.021) in male offspring families. Further studies with denser markers and larger sample size are required to eventually define the relationship between these two genes with bone mass at the spine and hip. © International Osteoporosis Foundation and National Osteoporosis Foundation 2004.
Persistent Identifierhttp://hdl.handle.net/10722/178853
ISSN
2015 Impact Factor: 3.445
2015 SCImago Journal Rankings: 1.460
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLong, JRen_US
dc.contributor.authorLiu, PYen_US
dc.contributor.authorLu, Yen_US
dc.contributor.authorDvornyk, Ven_US
dc.contributor.authorXiong, DHen_US
dc.contributor.authorZhao, LJen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2012-12-19T09:50:11Z-
dc.date.available2012-12-19T09:50:11Z-
dc.date.issued2005en_US
dc.identifier.citationOsteoporosis International, 2005, v. 16 n. 1, p. 86-92en_US
dc.identifier.issn0937-941Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/178853-
dc.description.abstractTransforming growth factor beta 1 (TGF-β1) is involved in bone metabolism and collagen type I alpha 1 (COL1A1) is the most abundant protein of bone matrix. Both have been considered as candidate genes for osteoporosis. In this study, we employed the transmission disequilibrium test (TDT) to examine the relationship between each of the two genes with bone mineral density (BMD) and bone mineral content (BMC) at the spine and hip in a sample of 1668 subjects from 387 Caucasian nuclear families. For the TGF-β1 gene, three SNPs, SNP1, SNP2, and SNP4 (located in exon 1, intron 4 and intron 5, respectively) were tested and the minor allele frequencies were 30.9%, 2.1% and 27.0%, respectively. All eight possible haplotypes (TGF1-8) were observed. For the COL1A1 gene, the minor allele frequencies of SNP5, SNP6 and SNP8 (located in exon 1, intron 1, and exon 45, respectively) were 15.2%, 18.7%, 2.0%, respectively, and only six of eight potential haplotypes (COL1-6) were obtained. In the whole sample, total associations were observed between haplotype COL5 with spine BMD (P = 0.027), haplotypes COL3 and TGF4 with hip BMC (P = 0.002, 0.003, respectively). Within-family associations were found for spine BMD at haplotypes TGF4 (P = 0.027) in female offspring families and TGF3 (P = 0.021) in male offspring families. Further studies with denser markers and larger sample size are required to eventually define the relationship between these two genes with bone mass at the spine and hip. © International Osteoporosis Foundation and National Osteoporosis Foundation 2004.en_US
dc.languageengen_US
dc.publisherSpringer U K. The Journal's web site is located at http://www.springer.com/medicine/orthopedics/journal/198en_US
dc.relation.ispartofOsteoporosis Internationalen_US
dc.subject.meshAdulten_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshCollagen Type I - Geneticsen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequency - Geneticsen_US
dc.subject.meshHaplotypes - Geneticsen_US
dc.subject.meshHipen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibrium - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshParentsen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshPolymorphism, Single Nucleotide - Geneticsen_US
dc.subject.meshSpine - Physiologyen_US
dc.subject.meshTransforming Growth Factor Beta - Geneticsen_US
dc.subject.meshTransforming Growth Factor Beta1en_US
dc.titleTests of linkage and/or association of TGF-β1 and COL1A1 genes with bone massen_US
dc.typeArticleen_US
dc.identifier.emailDvornyk, V: dvornyk@hku.hken_US
dc.identifier.authorityDvornyk, V=rp00693en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s00198-004-1650-1en_US
dc.identifier.pmid15164160-
dc.identifier.scopuseid_2-s2.0-13244255482en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-13244255482&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume16en_US
dc.identifier.issue1en_US
dc.identifier.spage86en_US
dc.identifier.epage92en_US
dc.identifier.isiWOS:000226284900011-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLong, JR=7403446542en_US
dc.identifier.scopusauthoridLiu, PY=7404618030en_US
dc.identifier.scopusauthoridLu, Y=26321148700en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_US
dc.identifier.scopusauthoridXiong, DH=7007033697en_US
dc.identifier.scopusauthoridZhao, LJ=7404455505en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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