6 research outputs found
mJSW and OA associated variants are co-localized with potential gene regulatory markers.
<p>We examined the epigenetic histone marks in Chondrogenic cells, osteoblasts, hMSC, K562, HUVEC, HeLA and NHEK cells. This heatmap of the percentage of variants in gene regulatory regions (enhancer/promoter associated regions) in high LD (r<sup>2</sup> >0.8) with lead GWAS SNP. Enrichment was calculated according [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006260#pgen.1006260.ref025" target="_blank">25</a>].</p
Association between protein coding variants identified by exome-sequencing and mJSW.
<p>Association between protein coding variants identified by exome-sequencing and mJSW.</p
Results from the minimal Joint Space Width genome-wide association study; discovery, replication and joint meta-analysis
<p>Results from the minimal Joint Space Width genome-wide association study; discovery, replication and joint meta-analysis</p
Manhattan plot for association of mJSW in the discovery phase.
<p>The -log10 P values, for each of the 2.5 million tests performed as part of the genome wide association of minimal joint space width of the hip (mJSW), plotted against their position per chromosome. Full results of the discovery GWAS are accessible through <a href="http://www.glimdna.org" target="_blank">www.glimdna.org</a>. The gray solid horizontal line corresponds to the genome-wide significant threshold (P = 5x10-8). The dotted grey line corresponds to the selection for replication threshold (P = 1x10<sup>-5</sup>).</p
Association of mJSW loci with previously reported phenotypes
<p>Association of mJSW loci with previously reported phenotypes</p