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Disease | Epigenetic modification | Gene | Effect | Phenotypic outcome | References |
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Pterygium | DNA hypermethylation | TGM2 | Reduced protein expression | | |
DNA hypomethylation | MMP2 | Increased protein expression | Fibrosis and neovascular changes | [12] |
DNA hypomethylation | CD24 | Increased protein expression | | |
Upregulation of hsa-miR-143a-3p, hsa-miR-181a-2-3p, hsa-miR-377-5p, and hsa-miR-411a | — | Reduced mRNA and protein expression | — | [13] |
|
GCD2 | H3K4 hypermethylation H3K27 hypomethylation | TGFBIp | Increased gene expression | Increased expression of ECM genes | [14] |
|
Cataract | DNA hypermethylation | GSTP1 | Reduced mRNA and protein expression | Increased oxidative stress | [15] |
DNA hypermethylation | OGG1 | Reduced mRNA and protein expression | Increased oxidative stress | [16] |
DNA hypermethylation H3K9 hypermethylation | ERCC6 | Reduced mRNA and protein expression | Increased rate of apoptosis | [17] |
|
Glaucoma | DNA hypomethylation | TGF-β1 | Increased protein expression | Increased ECM protein production and accumulation | [18] |
|
PEX | DNA hypermethylation | LOXL1 | Reduced protein expression | Failure of elastic fiber homeostasis | [19] |
|
Diabetic retinopathy | Downregulation of hsa-miR-29b-1 and hsa-miR-200b | // | Overexpression of gene target | Deregulation of cellular survival/apoptosis, ECM cytoskeleton signaling | [20] |
5hmC | RAC1 | Increased binding of NF-kB | Increased ROS levels | [21] |
|
AMD | DNA hypermethylation | GSTM1/5 | Reduced protein expression | Increased susceptibility to oxidative stress | [22] |
|
RB | Upregulation of hsa-miR-494, hsa-let-7e, hsa-miR-513a-1, hsa-miR-513a-2, hsa-miR-518c, hsa-miR-129-1, hsa-miR-129-1, hsa-miR-129-2, hsa-miR-198, hsa-miR-492, hsa-miR-498, hsa-miR-320, hsa-miR-503, and hsa-miR-373 | — | Deregulation of gene targets | Associated to insurgence/progression of retinoblastoma tumorigenesis through hypoxia, immune escape, reduction of apoptosis | [23] |
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