Table 3.
Genes associated with differentially methylated promoters between aortic and mitral valve tissue and their involvement in valve development and disease.
| Gene | Description | Development | Disease |
|---|---|---|---|
| NOS1 | Nitric oxide synthase 1 (neuronal) | Heart (25) | BAVa (25) |
| ACTC1 | Actin, alpha, cardiac muscle 1 | Heart (26) | MMVb (27) |
| MYL2 | Myosin, light chain 2, regulatory, cardiac | Heart (28) | |
| MT1F | Metallothionein 1F | MMV (29) | |
| CLEC11A | C-Type lectin domain containing 11A | MMV (30) | |
| RBL1 | Retinoblastoma-like 1 (p107) | BAV (31), AS (32) | |
| SLC16A3 | Solute carrier family 16, member 3 (monocarboxylate transporter) | BAV (33), ASc (34) | |
| NPPB | Natriuretic peptide B | EMTd (35) | MRe (36) |
| CDH4 | Cadherin 4, type 1, R-cadherin (retinal) | Valve (37) | |
| HAS1 | Hyaluronan synthase 1 | CAVDf (38) | |
| WNT5B | Wingless-type MMTV integration site family, member 5B | CAVD (39) | |
| Ubiquitin-related genes | Protein QCg in the heart (40) | BAVs (41), atherosclerosis (42) | |
| SMAD3 | SMAD family member 3 | Cardio-genesis (43) | ADh (44) |
| RXRA | Retinoid X receptor, alpha | Valve malformation (45) | |
| SH3KBP1 | SH3-domain kinase binding protein 1 | CAVD (46) | |
| APOA5 | Apolipoprotein A-V | AS (47–49) |
a
BAV, bicuspid aortic valve;
b
MMV, myxomatous mitral valve;
c
AS, aortic valve stenosis;
d
EMT, endothelial mesenchymal trans-differentiation;
e
MR, mitral valve regurgitation;
f
CAVD, calcific aortic valve disease;
g
QC, quality control;
h
AD, thoracic aortic aneurysm and dissection.