Epigenome-Wide Association Study Reveals Differential Methylation Sites and Association of Gene Expression Regulation with Ischemic Moyamoya Disease in Adults

Figure 1

(a) Analysis of overall signal median value. The abscissa shows the median signal value of the methylation site in the sample (log 2), and the ordinate shows the median signal value of the non-methylation site in the sample (log 2). All samples are represented as scattered points. There were no outliers in the adult samples of ischemic moyamoya disease and normal control samples. (b) Principal component analysis (PCA). After screening and filtering all differentially methylated sites, PCA was performed on all samples. All samples appear as scattered points in the first, second, and third principal component spaces. All samples are in the range of 4 standard deviations. ±1 sd-4 sd represent the four times standard deviation range, and the horizontal and vertical coordinates represent the acceptance range of principal component 1 and principal component 2, respectively. (c) CpG site association analysis and quantile-quantile map. Genome-wide association analysis was performed for all CpG loci with differential methylation. Significant observed values after adjustment for all sites were presented in the figure in the form of scattered points. As shown here, the pleiotropy of target genes at different methylation sites was significant. The horizontal and vertical coordinates represent the expected value loci and the actual value loci, respectively, of the results of CpG-whole gene association analysis.

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