Table 1 Epigenomic studies focusing on DNA and histone modifications in aortic diseases
From: Multi-omics in thoracic aortic aneurysm: the complex road to the simplification
DNA methylation | |||||||
|---|---|---|---|---|---|---|---|
Aneurysm Type | Source | Target/modification | Pathways | Notes | Citations | ||
Species | Samples | Genes | Up/Down | ||||
BAV-TAA, sTAA | Human | Aortic tissue | PTPN22 | ↓ | T-cell receptor signalling | Global DNA hypermethylation | [68] |
AAA in smokers and no smokers | Human | Mononuclear blood cells | CNN2 | ↓ | Cytoskeletal organization and vascular development | Reduction in CpG methylation in AAA vs non-AAA | [69] |
SERPINB9 | ↑ | Protection from granzyme B induced apoptosis | Increase in CpG methylation in AAA vs non-AAA | ||||
AAA | Human | VSMC | SERPINB9 | ↓ | Regulation of inflammation and apoptosis in VSMC | Increase in CpG methylation in AAA vs non-AAA | [70] |
SMYD2 | ↓ | Pro-inflammatory cytokines production; T cell differentiation and apoptosis regulation | Reduction in CpG methylation in AAA vs non-AAA | ||||
TAA or dissection | Murine | Aortic tissue samples from CBS+/- mice | Dnmt1 and Dnmt3a | ↑ | Maintenance and de novo methylation |  | [72] |
Intracranial aneurysm | Human | Peripheral whole blood | PNPLA6 | ↓ | Neuronal differentiation | Increased DNA methylation | [73] |
AAA and cerebral aneurysm | Human–Murine | Patients’ samples and VSMC from Uhrf1−/− mice | UHRF1 | ↑ | DNA methylation and histone post-translational modifications linkage | Increased global DNA methylation | [76] |
Histone post-translational modifications (HPMs) | |||||||
 TAA, BAV-TAA, and degenerative | Human | VSMC and fibroblast | H3K9/14ac and H3K4me | ↑ | SMAD2 overexpression in a TGF-ß1 independent manner | Sustained TGF-ß activity | [80] |
 TAA | Human | VSMC | H3K9/14ac | ↑ | SMAD2 hyperactivation | Histone acetylation, p53 recruitment, and acetylation | [81] |