Cindy Boer

Epigenomics in bone and cartilage disease | 41 1.2 Table 1 (continued): Summary of Epigenomewide Studies of DNA Methylation in Osteoporosis and Osteoarthritis Joint trait # and type of samples Tissue/Cell type Adjustments Technique Results Pathway enrichment Ref. Hip OA 9 osteophytes vs cartilage Chondrocytes No 450K array 3161 DMR Extracellular matrix, skel- etal system development, endodermal cell differen- tiation [145] Hip fracture and OA 22 fracture vs 17 OA Bone marrow MSCs Age 450K array 9038 DMS Only enhancer CpGs: stem‐cell development, osteoblast differentiation, Wnt pathway [58] Hip fracture and OA 7 hip fracture vs 11 OA Cartilage No 450K array 103 DMS Embryonal skeletal deve- lopment, HOX [48] Hip fracture and OA 27 fracture vs 26 OA Bone Age 27K array 241 DMS Neuron differentiation, glycoprotein, skeleton, Homeobox [57] OP 40 normal BMD vs 26 OP Bone Blood No Age, sex, cell counts, batch 450K array 63 13 Not reported [59] OP 22 normal BMD vs 12 early OP/10 advanced OP Blood No 450K array 1233 Not reported [61] BMD 4614 discovery; 901 replication Blood Age, weight, sex, smok- ing, family structure, cell counts, batch 450K array 0 NA [146] OA=osteoarthritis; DMS=differentially methylated site; BMI=body mass index; DMR=differentially methylated region; DhMR=differentially hydroxymethylated region; RRBS=reduced representative bisulphite sequencing; OP=osteoporosis; BMD=bone mineral density.