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Publication: Gregson et al., 2019 - A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signalling pathway as a potential anabolic target for osteoporosis
All Figures: Figures for Gregson et al., 2019

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Figure 2

GWAS for eBMD measured in UK Biobank: Regional association plot for the locus containing SMAD9. Top panel: circles show unconditioned GWAS p values and genomic locations of imputed SNPs within ±800 kb of the 5′ and 3′ UTR of each gene. Colors indicate varying degrees of pairwise linkage disequilibrium between the lead eBMD‐associated SNP (rs12427846, purple diamond) and all other SNPs. Second panel: Vertical shaded areas correspond to locations of DNase I hypersensitive sites (DHSs) characteristic of skeletal muscle myoblasts cell line (E120), osteoblast primary cells (E129), mesenchymal stem cell–derived chondrocyte cultured cells (E049) and mesenchymal stem cell–derived adipocyte cultured cells (E023). Red shading depicts intersections between DHSs and genomewide significant SNPs. Black shading denotes instances in which any other SNPs intersect DHSs. Third panel: Blue circle shows the position of the putative causal variant c.65T>C, p.Leu22Pro. Fourth panel: Horizontal lines represent genes with vertical lines annotating location of exons. Arrows indicate the direction in which each gene is transcribed.

Acknowledgments

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