Fig. 7: Osteocyte transcriptome signature genes are associated with eBMD and osteoarthritis in humans.
a The top 100 osteocyte transcriptome signature orthologs with significant gene-wise associations (GWS OTS ortholog) with eBMD25 (ranked by PJOINT < 2 × 10−6). The genome coordinates of each human ortholog are shown. b, The 40 osteocyte transcriptome signature orthologs with significant gene-wise associations (GWS OTS ortholog) with OA (any subcategory)64 (PJOINT < 2 × 10−6). Blue bars show the genome coordinates of significant, conditionally independent GWAS variants associated with eBMD (a) or OA (b) (GWAS lead variants). Genes with significant gene-wise associations and that are located nearest to these loci are shown in red, genes that are not nearest to these loci are shown in black. Genes annotated with a role in the skeleton (either GO biological processes database or skeletal phenotype in the MGI database) are denoted with *, genes in the Origins of Bone and Cartilage Disease (OBCD) database are denoted with $ and genes that cause skeletal genetic disorder when mutated in humans denoted with #.
