Figure 1.
CAD-associated risk variants at JCAD locus are associated with increased JCAD gene expression in human aortic artery tissues. (A) Identification of lead single nucleotide polymorphism (SNP) rs9337951 in the CARDIoGRAMplusC4D and UK Biobank meta-analysis8. (B) Box plots showing expression quantitative trait loci data from GTEx (v7) datasets for the lead genome-wide association studies SNP (rs9337951) associated with normalized JCAD gene expression in aortic artery tissue. Both genome-wide significant expression quantitative trait loci P-values and normalized effect size are shown for indicated SNPs. (C) Single-tissue expression quantitative trait loci normalized effect sizes for rs9337951 are shown for 48 different tissues in GTEx (v7), depicted as a color-coded forest plot with 95% confidence intervals. METASOFT based m-values representing the posterior probability of tissue-specific expression quantitative trait loci’s are also shown with their respective single-tissue expression quantitative trait loci P-values.