Fig. 1
From: Epigenome-wide association study identifies novel genes associated with ischemic stroke
A flowchart illustrating the study design and selection of participants. In the discovery stage, 40 CATIS IS cases and 40 PMMS controls were randomly selected to identify potential epigenetic markers of IS. From the remaining CATIS and PMMS participants, 1000 cases and 1000 age- and sex-matched controls were randomly selected as an internal replication sample to further confirm epigenetic markers of IS; after QC, 853 cases and 918 controls remained for downstream analysis. Additionally, an external cohort of 390 Spanish participants was used for further validation of the DMPs identified. To test the causal effect on gene expression of DNA methylation at loci identified in the aforementioned stages, human umbilical vein endothelial cell (HUVEC) models were epigenetically modified via CRISPR/dCas9-Dnmt3a. DMG, differentially methylated gene; DMP, differentially methylated probe; DMR, differentially methylated region; HUVEC, human umbilical vein endothelial cell; IS, ischemic stroke; TBS, targeted bisulfite sequencing