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Fig. 3 | Clinical Epigenetics

Fig. 3

From: DNA methylation analysis reveals epimutation hotspots in patients with dilated cardiomyopathy-associated laminopathies

Fig. 3

DMRs associate to dysregulated and disease-relevant genes near redistributed LADs. a Disease ontology terms enriched in DMRs, grouped by disease type. Heatmap reports the degree of statistical significance for enrichment. Results were categorized as hypomethylated (red) or hypermethylated (blue) by type of DMR associated with a particular disease. b Number of genes in cardiovascular and skeletal disease associated with Family A-specific and Family C-specific DMRs. c Top, Fraction of DMR-associated fibroblast DEGs present in one of four combinatorial groups of differential methylation (Δ Methylation) and differential gene expression (Δ Expression). Middle, (+) indicate patient > control, while (−) indicate patient < control for both differential methylation and gene expression. Bottom, Category of fibroblast DEGs and number of DEGs by family (Family A/Family C). d Number and percentage of DEGs shared between fibroblast and cardiac tissue associated with DMRs in Family A only, Family C only, or both. e Circos map of the genome (Top) and zoomed in chromosome 5 (Bottom). Outer to inner rings represent the following: Track I—genomic distance (log 10) between DMRs within Family A or Family C. Track II—fold change (log 2) of fibroblast DEGs, highlighting two genes found within the top 10 most differentially expressed. Track III—location of LADs in cardiomyocytes from either LMNA-related DCM or control samples from prior study [8]. f Density of genomic distance to the nearest inter-family CpG for differentially methylated CpGs and a random sample of CpGs. Wilcoxon rank sum test p-value is displayed. g Number of DEGs shared between fibroblast and cardiac tissue associated with DMRs in Family A or Family C falling within or distal to redistributed LADs (Gain of LAD (GoL), Loss of LAD (LoL), or Maintenance of LAD (MoL)). h Stacked histogram of the distance between DMR-associated DEGs, shared between fibroblast and cardiac tissue, and the nearest redistributed LAD

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