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Fig. 10 | Journal of Translational Medicine

Fig. 10

From: DNA methylation regulator-mediated modification patterns and risk of intracranial aneurysm: a multi-omics and epigenome-wide association study integrating machine learning, Mendelian randomization, eQTL and mQTL data

Fig. 10

A, B Manhattan plot shows GWAS results. The y-axis indicates the Z-score for each gene tested on all autosomal and single nucleotide polymorphism weight sets. The x-axis indicates the chromosomal position corresponding to the gene, and the black line indicates the threshold of significance. C–E Pleiotropic association of DNMT3A with SAH/UIA (C, D) and MBD2 with UIA (E) using genome-wide cis-eQTLs. Top plot, grey dots represent the – log10 (p values) for SNPs from the GWAS of SAH/UIA, with solid rhombuses indicating that the probes pass HEIDI test. Middle plot, eQTL results. Bottom plot, location of genes tagged by the probes. Effect estimates IA, SAH, and UIA (F, N). Investigation of the association of a genetically determined unit increase in exposure with the risk of IA/SAH/UIA using inverse-variance weighted, MR Egger, and weighted median estimates. F, I, L Scatter plots of individual SNP effects and estimates from different MR techniques for the effect of DNA methylation related-genes on IA/SAH/UIA. G, J, M, Funnel plots of DNA methylation related-genes on IA/SAH/UIA. H, K, N Leave-one-out analysis plots for DNA methylation related-genes on IA/SAH/UIA. eQTL expression quantitative trait loci, GWAS genome–wide association studies, HEIDI heterogeneity in dependent instruments, SMR summary data–based Mendelian randomization, SNP single nucleotide polymorphism, SAH subarachnoid hemorrhage, IA Intracranial aneurysm

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Journal of Translational Medicine

ISSN: 1479-5876

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