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. Author manuscript; available in PMC: 2023 Dec 1.
Published in final edited form as: Nat Neurosci. 2023 Jun 1;26(6):970–982. doi: 10.1038/s41593-023-01334-3

Extended Data Figure 9. AD GWAS loci linked to brain vascular adDEGs.

Extended Data Figure 9.

a. Three proposed types of regulatory mechanisms to interpret the association between adDEGs and AD genetic variants: (1) SNP directly (cis) regulates adDEG; (2) SNP indirectly (trans) regulate adDEG; (3) SNP indirectly (ligand-receptor signaling) regulates adDEG. b-g. Examples of adDEGs directly regulated by AD-associated variants through linking (eQTLs, Hi-C, promoter-enhancer correlation) along with the expression changes in vascular cell types in AD shown in the boxplots on the right (n=10,272 and 12,242 nuclei in AD and control individuals). The box starts in the first quantile (25%) and ends in the third (75%). The line inside represents the median. Two whiskers represent the maximum and minimum without outliers. Likelihood ratio test is used here (two-sided, adjusted p-value < 0.05 as cutoff. P-value is shown in the barplot.). h. The number of targets regulated by three, two, or only one of the regulatory mechanisms.