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Fig. 3 | Clinical Epigenetics

Fig. 3

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. 3

Bisulfite pyrosequencing of candidate gene GTF2H4 (cg22508626) validates direction of methylation change identified in 450k array. a–c Univariate analysis of GTF2H4 cg22508626 in Illumina 450k BeadChip array. a Methylation β values for AMD (n = 25) compared to normal RPE donor cells (n = 19) after normalization, in addition to analysis of sex-stratified results for cg22508626 (GTF2H4). Significantly increased methylation levels are observed in AMD compared to normal (p = 0.0003), in addition to both b AMD male (n = 15) and c AMD female (n = 10) compared to normal male (n = 12) (p = 0.0074) and normal female (n = 7) (p = 0.0136) human donor samples respectively. df Bisulfite pyrosequencing of candidate gene GTF2H4 (cg22508626) in combined technical and independent sample replications. d Mean methylation difference observed in cg22508626 (GTF2H4) in AMD (n = 29) compared to normal donor samples (n = 24) does not reach statistical significance (p = 0.1263). Sex-stratified analysis reveals no significant methylation differences in e AMD male (n = 18) versus normal male (n = 18) donor samples. Significantly increased methylation is observed in f AMD female (n = 11) versus normal male (n = 6) (p = 0.0292). (*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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