Association of functionally different RUNX2 P2 promoter alleles with BMD

James D Doecke, Griffith University
Christopher J. Day, Griffith University
Alexandre SJ Stephens, Griffith University
Shea L. Carter, Queensland University of Technology
Angela van Daal, Queensland University of Technology
Mark A. Kotowicz, University of Melbourne
Geoff C. Nicholson, University of Melbourne
Nigel A. Morrison, Griffith University

Abstract

RUNX2 gene SNPs were genotyped in subjects from the upper and lower deciles of age- and weight-adjusted femoral neck BMD. Of 16 SNPs in RUNX2 and its two promoters (P1 and P2), only SNPs in the P2 promoter were significantly associated with BMD. These P2 promoter SNPs were functionally different in gel-shift and promoter activity assays.