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, doi: 10.1371/journal.pone.0072740.
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.
Field of Research
110399 Clinical Sciences not elsewhere classified
Socio Economic Objective
920116 Skeletal System and Disorders (incl. Arthritis)
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