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Title: Polyalanine Repeat Polymorphism in RUNX2 Is Associated with Site-Specific Fracture in Post-Menopausal Females
Authors: Morrison, N.A.
Stephens, A.S.
Osato, M. 
Pasco, J.A.
Fozzard, N.
Stein, G.S.
Polly, P.
Griffiths, L.R.
Nicholson, G.C.
Issue Date: 23-Sep-2013
Citation: Morrison, N.A., Stephens, A.S., Osato, M., Pasco, J.A., Fozzard, N., Stein, G.S., Polly, P., Griffiths, L.R., Nicholson, G.C. (2013-09-23). Polyalanine Repeat Polymorphism in RUNX2 Is Associated with Site-Specific Fracture in Post-Menopausal Females. PLoS ONE 8 (9) : -. ScholarBank@NUS Repository.
Abstract: 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. © 2013 Morrison et al.
Source Title: PLoS ONE
ISSN: 19326203
DOI: 10.1371/journal.pone.0072740
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