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Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal femals

Morrison, Nigel A, Stephens, Alexandre S, Osato, Motomi, Pasco, Julie A, Fozzard, Nicolette, Stein, Gary S, Polly, Patsie, Griffiths, Lyn R and Nicholson, Geoff C 2013, Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal femals, Plos One, vol. 8, no. 9, pp. 1-8.

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Title Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal femals
Author(s) Morrison, Nigel A
Stephens, Alexandre S
Osato, Motomi
Pasco, Julie A
Fozzard, Nicolette
Stein, Gary S
Polly, Patsie
Griffiths, Lyn R
Nicholson, Geoff C
Journal name Plos One
Volume number 8
Issue number 9
Start page 1
End page 8
Total pages 8
Publisher Public Library of Science
Place of publication San Francisco, CA
Publication date 2013-09
ISSN 1932-6203
Summary Runt 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.
Language eng
Field of Research 110399 Clinical Sciences not elsewhere classified
Socio Economic Objective 920116 Skeletal System and Disorders (incl. Arthritis)
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2013, Public Library of Science
Persistent URL http://hdl.handle.net/10536/DRO/DU:30059104

Document type: Journal Article
Collections: Faculty of Health
School of Medicine
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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.