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Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA;  n  = 14 260), velocity of sound (VOS;  n  = 15 514) and BMD ( n  = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data ( in silico n  = 11 452) and new genotyping in 15 cohorts ( de novo n  = 24 902). In combined random effects, meta-analysis of the discovery and replication cohorts, nine single nucleotide polymorphisms (SNPs) had genome-wide significant ( P  &lt; 5 × 10 −8 ) associations with heel bone properties. Alongside SNPs within or near previously identified osteoporosis susceptibility genes including  ESR1  (6q25.1: rs4869739, rs3020331, rs2982552),  SPTBN1  (2p16.2: rs11898505),  RSPO3  (6q22.33: rs7741021),  WNT16  (7q31.31: rs2908007),  DKK1  (10q21.1: rs7902708) and  GPATCH1  (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to  TMEM135 , a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS ( P  &lt; 8.23 × 10 −14 ). In meta-analyses involving 25 cohorts with up to 14 985 fracture cases, six of 10 SNPs associated with heel bone properties at  P  &lt; 5 × 10 −6  also had the expected direction of association with any fracture ( P  &lt; 0.05), including three SNPs with  P  &lt; 0.005: 6q22.33 (rs7741021), 7q31.31 (rs2908007) and 10q21.1 (rs7902708). In conclusion, this GWA study reveals the effect of several genes common to central DXA-derived BMD and heel ultrasound/DXA measures and points to a new genetic locus with potential implications for better understanding of osteoporosis pathophysiology.

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium