Two of the novel loci were discovered in the sex-stratified meta-analysis: 8q13.3 in women and Xp22.31 in men; however, only the association at Xp22.31 showed significant evidence for sex-specificity as reflected by significant heterogeneity of effects across sex strata (Phet=1.62×10−8). Yet, we acknowledge that the association at 8q13.3 in women may be driven by a lower number of men in the discovery and replication datasets (Table 1 and Supplementary Table 5). Furthermore, evidence for BMD site-specificity (Phet<5×10−4) was observed in a fraction of the loci including 6 of the 32 novel and 4 of the 24 known loci (Table 1 and Supplementary Fig. 6). Among the newly identified loci, 2q14 (INSIG2), 12p11.22 (PTHLH) and 16q12.1 (CYLD) displayed site-specificity with FN-BMD while 8q13.3 (LACTB2), 10p11.23 (MPP7) and 10q22.3 (KCNMA1) displayed site-specificity with LS-BMD.
