Table 2.
Genes robustly associated with BMD on GWAS meta-analyses
| Gene | Location | Full name |
|---|---|---|
| TGFBR3 | 1p22 | TGF, β-receptor III |
| ZBTB40 | 1p36 | Zinc finger and BTB domain containing 40 |
| GPR177 | 1p31.3 | G protein-coupled receptor 177 (aka WNTLESS homolog) |
| SPTBN1 | 2p21 | Spectrin, β, nonerythrocytic 1 |
| CTNNB1 | 3p22 | catenin (cadherin-associated protein) β1 |
| MEPE | 4q21.1 | matrix, extracellular phosphoglycoprotein; aka osteoblast/osteocyte factor 45 |
| MEF2C | 5q14 | MADS box transcription enhancer factor 2, polypeptide C |
| ESR1 | 6q25 | Estrogen receptor 1 |
| C6orf97 | 6q25 | Chromosome 6 open reading frame 97 |
| STARD3NL | 7p14 | STARD3 N-terminal like, encodes a cholesterol endosomal transporter |
| SFRP4 | 7p14 | Secreted frizzled-related protein 4 |
| FLJ42280 | 7q21.3 | Unknown function |
| FAM3C | 7q31 | Family with sequence similarity 3, member C |
| VPS13B | 8q22 | Vacuolar protein sorting-associated protein 13B |
| TNFRSF11B | 8q24 | TNF receptor superfamily, member 11b (encodes Opg) |
| ARHGAP1 | 11p11.2 | ρ-GTPase activating protein 1 |
| LRP5 | 11q13.4 | low density lipoprotein receptor-related protein 5 |
| DCDC5 | 11p14.1 | doublecortin domain containing 1 |
| SOX6 | 11p15 | SRY (sex determining region Y)-box 6 (encodes a SOX family transcription factor defined by a conserved high-mobility group DNA-binding domain) |
| SP7 | 12q13 | Osterix; Sp7 transcription factor |
| AKAP11 | 13q14 | A kinase (PRKA) anchor protein 11 |
| TNFSF11 | 13q14 | TNF (ligand) superfamily, member 11 (RANKL) |
| ADAMTS18 | 16q23 | ADAM metallopeptidase with thrombospondin type 1 motif, 18 |
| FOXL1, FOXC2 | 16q24.3 | Forkhead gene family, expressed in the gastrointestinal mucosa (FOXL1) or involved in adipocyte metabolism and early-stage chondrogenic differentiation (FOXC2) |
| SOST | 17q11.2 | Sclerostin |
| CRHR1 | 17q12-q22 | CRF receptor |
| HDAC5 | 17q21 | Histone deacetylase 5 |
| TNFRSF11A | 18q21 | TNF receptor superfamily, member 11a, NFKB activator (encodes RANK) |
| JAG1 | 20p12 | Protein jagged-1 precursor |