Fig. 4.
Genetic analysis. A PGRS across SNP thresholds SNP weights were based on [49]. Full data (including data after correction for APOE ε4 genotype and demographics, and separate for cohort and clinical stage) are shown in Supplemental Data S4a. a + t + : abnormal Aβ1-42 and increased t-tau (red); a + t-: abnormal Aβ1-42 and normal t-tau (blue). B Number of proteins associated with genetic risk score (GRS) and processes associated with these proteins. Left site shows number of proteins with a positive correlation with CSF t-tau GWAS-based GRS (coloured outer ring) and right site indicates to which GO-biological processes (GO-BP) these proteins below (GO-BP CSF, grey outer ring). Shown are the 10 GRS with the highest number of positive correlations with CSF proteins. The size of the arrows visualizes the number of correlations between GRS and protein concentration. For example, the GO-BP gene expression GRS showed a positive correlation with 256 proteins and these proteins were predominantly associated with nervous system development, gene expression and cell adhesion. Arrows to CSF GO-BP are shown in case the GRS correlated with at least 8 proteins from the CSF GO-BP. Supporting data in Data S5a. ECM = Extracellular matrix