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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.

Introduction: Specific osteoblast genes are induced by Runx2, a cell‐specific transcription factor that is a candidate gene for controlling BMD. We tested the hypothesis that RUNX2 genetic variation is associated with BMD.

Materials and Methods: From a population repository of normal subjects, the age‐ and weight‐adjusted femoral neck BMD was ranked, and the upper and lower deciles (n = 132 each) were taken to represent the adjusted extremes of the population distribution. In these 264 subjects, we identified 16 …