Figure 8: Validation of CDKN2B and PDGFD candidate variants in STARNET CAD eQTL data sets.
From: Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci

(a,b) Distribution of all cis-eQTLs called for CDKN2B from STARNET diseased human aorta (n=513 independent donors/biological replicates) and mammary artery (n=528 independent donors/biological replicates) tissues, respectively. Association plot includes variants colour-coded by r2 value to represent LD with candidate SNP (shown in purple). Gene names are shown at genomic positions (hg19 assembly). (c) For each genotype, the normalized expression of CDKN2B in STARNET is shown as well as the linear regression line. (d,e) Distribution of all cis-eQTLs called for PDGFD in aortic and mammary artery tissue. In this case, the candidate SNP of interest was also the most significant eQTL for PDGFD. (f) For each genotype, the normalized expression of PDGFD is shown as well as the linear regression line. −log10(P values) and log2 normalized expression levels determined as described in the Methods section. AOR, aorta; MAM, mammary artery.