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Fig. 2 | Clinical Epigenetics

Fig. 2

From: Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes

Fig. 2

Bisulfite pyrosequencing of candidate gene SKI (cg18934822) validates direction of methylation change identified in 450k array. a–c Univariate analysis of SKI (cg18934822) in Illumina 450k BeadChip array. a Methylation β values for AMD (n = 25) compared to normal (n = 19) donor RPE cells after normalization, in addition to analysis of sex-stratified results for cg18934822 (SKI). Significantly reduced methylation levels are observed in AMD (p < 0.0001), as well as in both AMD male (n = 15) (b) and AMD female (n = 10) (c) compared to normal male (n = 12) (p = 0.0063) and normal female (n = 7) (p = 0.0031) human RPE donor cells respectively. d–f Bisulfite pyrosequencing of candidate gene SKI (cg18934822) in combined technical and independent sample replications. d Reduced methylation of cg18934822 (SKI) is identified in AMD (n = 30) compared to normal donor RPE cells (n = 25) (p = 0.0309). e Reduced methylation of cg18934822 (SKI) is identified in AMD AMD male (n = 20) compared to normal male (n = 18) (p = 0.1223) and f AMD female (n = 10) compared to normal female donor samples (n = 7) (p = 0.1002). (*p ≤ 0.05; **p ≤ 0.01; ***p ≤ 0.001; ****p ≤ 0.0001). All statistical analysis was performed using the Mann-Whitney U test

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