Figure 5. VWF gene hypomethylation correlates with increased gene expression.

(A) UCSC genome browser view of the VWF gene locus, coupled with the DNA methylation β values for this region, shown as a heatmap (columns, CpGs; rows, samples grouped by race). Top UCSC tracks include locations CTCF ChIP-Seq peaks in IMR-90 cells from ENCODE (in orange) and predicted cis-regulatory elements provided by GeneHancer. The heatmap shows the CpG methylation in the VWF gene. (B) Box and whisker plots show the median and range of β values in Black and White MyoF for the 2 probes identified in A. Means for probes are significantly different by 2-tailed t test (P = 0.01 for both). (C) β Values (x axis) and VWF expression (y axis) show that β value is negatively correlated with expression in the MyoF samples (r² = 0.19 for cg14954762 and r² = 0.21 for cg25926078; P = 0.03 for both).