| 4C | a derivative of chromosome conformation capture (3C) method |
| AFF | atypical femur fracture |
| ATAC-Seq | Assay for Transposase-Accessible Chromatin using sequencing |
| bALP | bone alkaline phosphatase |
| BMD | Bone mineral density |
| BMSC | bone marrow mesenchymal stromal cells |
| BRONJ | Bisphosphonate-induced osteonecrosis of the jaw |
| circRNA | circular RNA |
| CNE | conserved non-coding DNA element |
| CTX | C-terminal telopeptide of collagen type I |
| DXA | Dual X-ray absorptiometry |
| eBMD | estimated bone mineral density |
| ENU | N-ethyl-N-nitrosourea |
| eQTL | Expression quantitative trait locus |
| GEO | Gene Expression Omnibus |
| GWAS | Genome-wide association studies |
| GWS | Genome-wide significant |
| HGMD | Human Gene Mutation Database |
| Hi-C | high-throughput chromosome conformation capture |
| KP | known pathogenic |
| lncRNA | long non-coding RNA |
| MAF | Minor Allele Frequency |
| Mb | Mega base pairs |
| miRNA | microRNA |
| miR-SNPs | polymorphisms in miRNA genes |
| miR-TS-SNPs | SNPs that occur in the miRNA target site |
| mQTLs | DNA methylation quantitative trait locus |
| mRNA | messenger RNA |
| MSC | Mesenchymal stromal cells |
| MSK | musculoskeletal |
| ncRNA | non-coding RNA |
| NMR | nuclear magnetic resonance |
| OI | Osteogenesis imperfecta |
| PBMC | peripheral blood mononuclear cell |
| PheWAS | Phenome-wide association study |
| pQTL | protein expression quantitative trait locus |
| QCT | Quantitative computed tomography |
| QTL | quantitative trait locus |
| RNA-seq | RNA sequencing |
| scRNA-seq | single cell RNA sequencing |
| SINE | short interspersed nuclear element |
| SNP | single nucleotide polymorphism |
| SRA | Sequence Read Archive |
| TF | transcription factor |
| TFBS | transcription factor binding site |
| TMD | tissue mineral density |
| UKBB | UK BioBank |
| WES | Whole exome sequencing |
| WGS | Whole genome sequencing |
| WT | wild type |