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dc.contributor.authorMorrison, Nigel A
dc.contributor.authorStephens, Alexandre S
dc.contributor.authorOsato, Motomi
dc.contributor.authorPasco, Julie A
dc.contributor.authorFozzard, Nicolette
dc.contributor.authorStein, Gary S
dc.contributor.authorPolly, Patsie
dc.contributor.authorGriffiths, Lyn R
dc.contributor.authorNicholson, Geoff C
dc.date.accessioned2017-05-03T15:36:04Z
dc.date.available2017-05-03T15:36:04Z
dc.date.issued2013
dc.date.modified2014-04-01T06:27:04Z
dc.identifier.issn1932-6203
dc.identifier.doi10.1371/journal.pone.0072740
dc.identifier.urihttp://hdl.handle.net/10072/57667
dc.description.abstractRunt related transcription factor 2 (RUNX2) is a key regulator of osteoblast differentiation. Several variations within the RUNX2 gene have been found to be associated with significant changes in BMD, which is a major risk factor for fracture. In this study we report that an 18 bp deletion within the polyalanine tract (17A>11A) of RUNX2 is significantly associated with fracture. Carriers of the 11A allele were found to be nearly twice as likely to have sustained fracture. Within the fracture category, there was a significant tendency of 11A carriers to present with fractures of distal radius and bones of intramembranous origin compared to bones of endochondral origin (p = 0.0001). In a population of random subjects, the 11A allele was associated with decreased levels of serum collagen cross links (CTx, p = 0.01), suggesting decreased bone turnover. The transactivation function of the 11A allele showed a minor quantitative decrease. Interestingly, we found no effect of the 11A allele on BMD at multiple skeletal sites. These findings suggest that the 11A allele is a biologically relevant polymorphism that influences serum CTx and confers enhanced fracture risk in a site-selective manner related to intramembranous bone ossification.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.format.extent414044 bytes
dc.format.mimetypeapplication/pdf
dc.languageEnglish
dc.publisherPublic Library of Science
dc.publisher.placeUnited States
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrome2740-1
dc.relation.ispartofpagetoe2740-8
dc.relation.ispartofissue9
dc.relation.ispartofjournalPL o S One
dc.relation.ispartofvolume8
dc.rights.retentionY
dc.subject.fieldofresearchMedical and Health Sciences not elsewhere classified
dc.subject.fieldofresearchcode119999
dc.titlePolyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://www.plos.org/journals/license.html
gro.facultyGriffith Health, School of Medical Science
gro.rights.copyright© 2013 Morrison et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License CCAL. (http://www.plos.org/journals/license.html)
gro.date.issued2013
gro.hasfulltextFull Text
gro.griffith.authorMorrison, Nigel A.
gro.griffith.authorGriffiths, Lyn
gro.griffith.authorStephens, Alexandre
gro.griffith.authorFozzard, Nikki


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