Table 1. BMD-associated loci from GWAS, overlap between adult and pediatric bone loci and essential biological pathways involved.
| Gene Name(s) | Locus | Adult/Pediatric | Biological Pathway |
|---|---|---|---|
| SP7 (Osterix) | 12q13.13 | Both | Mesenchymal stem cells |
| RANKL (AKAP11) | 13q14.11 | Both | RANKL/RANK/OPG |
| OPG (TNFRSF11B, COLEC10) | 8q24 | Both | RANKL/RANK/OPG, skeletal system development |
| RANK (TNFRSF11A) | 18q22.1 | Both | RANKL/RANK/OPG, skeletal system development |
| PTHLH (KLHDC5) | 12p11.22 | Both | Skeletal system development |
| LRP5 (PPP6R3) | 11q13.4 | Both | WNT |
| RSPO3 | 6q22.33 | Both | WNT |
| WNT16 (C7orf58, CPED1, FAM3C) | 7q31 | Both | WNT |
| WNT4 | 1p36.23-p35.1 | Both | WNT |
| FUBP3 | 9q34.11-q34.12 | Both | |
| GALNT3 | 2q24-q31 | Both | |
| LGR4 (LIN7C) | 11p14-p13 | Both | |
| ABCF2 | 7q36 | Adult | |
| SUPT3H | 6p21.1-p21.3 | Adult | Mesenchymal stem cells |
| SOX9 | 17q24.3-q25.1 | Adult | Mesenchymal stem cells, skeletal system development |
| HOXC6 | 12q13.3 | Adult | Skeletal system development |
| IDUA | 4p16.3 | Adult | Skeletal system development |
| MEPE | 4q21.1 | Adult | Skeletal system development |
| SOX6 | 11p15.3 | Adult | Skeletal system development |
| AXIN1 | 16p13.3 | Adult | WNT |
| MAPT | 17q21.1 | Adult | WNT |
| SOX4 (CDKAL1) | 6p22.3 | Adult | WNT |
| WLS (GRP177) | 1p31.3 | Adult | WNT |
| WNT5B (ERC1) | 12p13.3 | Adult | WNT |
| CTNNB1 | 3p21 | Adult | WNT, mesenchymal stem cells, skeletal system development |
| SOST | 17q11.2 | Adult | WNT, skeletal system development |
| ANAPC1 | 22q12.1 | Adult | |
| ARHGAP1 | 11p12-q12 | Adult | |
| C12orf23 | 12q23.3 | Adult | |
| C16orf38 (CLCN7, PTX4) | 16p13 | Adult | |
| C17orf53 | 17q21.31 | Adult | |
| C18orf19 (FAM210A) | 18p11.21 | Adult | |
| ESR1 (C6orf97) | 6q25.1 | Adult | |
| CPN1 | 10q24.2 | Adult | |
| CYLD | 16q12.1 | Adult | |
| DCDC5 | 11p14.1-p13 | Adult | |
| DHH | 12q12-q13.1 | Adult | |
| DNM3 | 1q24.3 | Adult | |
| FOXL1 | 16q24 | Adult | |
| GPATCH1 | 19q13.11 | Adult | |
| INSIG2 | 2q14.1 | Adult | |
| JAG1 | 20p12.1-p11.23 | Adult | |
| KCNMA1 | 10q22.3 | Adult | |
| KIAA2018 | 3q13.2 | Adult | |
| LEKR1 | 3q25.31-q25.32 | Adult | |
| MARK3 | 14q32.3 | Adult | |
| MBL2 | 10q11.2-q21 | Adult | |
| MEF2C | 5q14 | Adult | |
| MPP7 | 10p11.23 | Adult | |
| NTAN1 | 16p13.11 | Adult | |
| PKDCC | 2p21 | Adult | |
| RPS6KA5 | 14q31-q32.1 | Adult | |
| SALL1 | 16q12.1 | Adult | |
| SLC25A13 (C7orf76) | 7q21.3 | Adult | |
| SMG6 | 17p13.3 | Adult | |
| SPTBN1 | 2p21 | Adult | |
| STARD3NL | 7p14-p13 | Adult | |
| TXNDC3 | 7p14.1 | Adult | |
| XKR9 (LACTB2) | 8q13.3 | Adult | |
| ZBTB40 | 1pter-q31.3 | Adult | |
| EYA4 | 6q23 | Pediatric | |
| MTAP (MIR31HG) | 9p21 | Pediatric | |
| RIN3 | 14q32.12 | Pediatric |
Abbreviations: BMD, bone mineral density; GWAS, genome-wide association study.