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. Author manuscript; available in PMC: 2020 Jan 1.
Published in final edited form as: Trends Genet. 2018 Nov 20;35(1):55–67. doi: 10.1016/j.tig.2018.10.004

Table 1.

Examples of large-scale GWAS and GWAS meta-analyses for BMD illustrates the increase in identified loci as a function of sample size.

Study Phenotype Sample size Association count
Morris et al. (2018)[19] Estimated heel BMD 426,824 1103 independent associations (518 loci, 301 novel)
Kemp et al. (2017)[17] Estimated heel BMD 142,487 307 independent associations (203 loci, 153 novel)
Estrada et al. (2012) (meta-analysis) [16] Lumbar spine and femoral neck BMD 83,894 (32,961 discovery, 50,933 replication) 64 independent associations (56 loci, 32 novel)
Rivadeneira et al. (2009) [40] Lumbar spine and femoral neck BMD 19,195 20 independent associations (20 loci, 13 novel)

Note that the most recent discovery of 518 loci encompassed nearly all of the previously discovered loci identified in prior studies.