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. 2013 May;14(3):166–172. doi: 10.2174/1389202911314030002

Table 1.

DNA Methylation and Histone Modifications in Ocular Diseases.

Gene Modification Study Population Tissue Effect/significance Reference
IL17RC Hypomethylation of promoter region AMD patients Peripheral blood mononuclear cells Increased frequency of IL-17RC+CD14+ mononuclear cells in peripheral blood [16]
GSTM1 and GSTM5 Hypermethylation of promoter region AMD patients RPE/choroid and neurosensory retina Decreased mRNA and protein levels of GSTM1 and GSTM5 [17]
CRYAA Hypermethylation of CpG island at -856 to -640 Age-related cataract patients Lens epithelial cells Decreased mRNA and protein levels of CRYAA [18]
TGM2 Hypermethylation of CpG sites at -268, -32, -29 bp Pterygium patients Pterygium tissue Decreased mRNA and protein levels of TGM2 [19]
MMP2 Hypomethylation of CpG sites at +484 and +602 bp Pterygium patients Pterygium tissue Increased mRNA and protein levels of MMP2 [19]
CD24 Hypomethylation of CpG sites at -809, -762, -631, -629 bp Pterygium patients Pterygium tissue Increased mRNA and protein levels of CD24 [19]
MSH6, CD44, PAX5, ATA5, TP53, VHL, GSTP1, GMT, RB1, and CDKN2 Hypermethylation of promoter regions Retinoblastoma patients Formalin-fixed paraffin-embedded retinoblastoma tissue Epigenetic dysregulation of tumor suppressors [20]
CXCR4 Hypermethylation of CpG site in promoter region Balb/c NOD SCID mice LS174T human colon adenocarcinoma cells injected into anterior chamber Ocular microenvironment can regulate promoter methylation and expression of CXCR4 [21]
Sod2 Increased H4K20me3 and H3K9ac at promoter and enhancer regions Streptozotocin-induced diabetic rat Retina Decreased Sod2 expression [22]