We de-novo genotyped these 96 SNPs and tested them for association with BMD in up to 50,933 additional participants from 34 studies (see Online Methods). The meta-analysis of the 96 SNPs in the discovery and replication studies (n=83,894) yielded 64 replicating SNPs from 56 associated loci. Of these loci, 32 were novel (Table 1 and Supplementary Table 4A) and 24 were reported previously8–14 (Supplementary Table 4B). Thirty two SNPs did not reach genome-wide significance after replication (Supplementary Table 4C) and included 10 markers remaining associated at a suggestive level. Of all analyzed SNPs only one (rs9533090 mapping to 13q14.11 near RANKL) displayed high degree of heterogeneity of effects (I2>50%) across studies, despite being the marker with highest significance (P=4.82×10−68) in the fixed-effect meta-analysis (Supplementary Table 4B). After applying random effects meta-analysis, this marker was still genome-wide significant (P=3.98×10−13).
