Fig. 5.

Association results of CSF sTREM2 at chromosome 19. A LocusZoom plots at chromosome 19 before conditional analysis and conditional analyses on Apolipoprotein E (ApoE) haplotype. Linkage disequilibrium (LD) estimates used our data. X-axis depicts genomic coordinates at chromosome 19 and y-axis denotes the negative log10-transformed P value for each genetic variant. B Linkage disequilibrium (LD) heatmap of chromosome 19 SNPs and 2 APOE snps. C Forest plots of effect size estimated by cohort for rs111666329. The effect allele is G for rs11666329. Heterogeneity P is 0.75 for rs11666329. D Association results of rs11666329 for CSF sTREM2, CSF Aβ42, CSF pTAU, CSF NECTIN2, cortex NECTIN2, Microglia NECTIN2, Blood NECTIN2, AD age at onset, and AD risk. E-F NECTIN2 was overexpressed in PBMC-derived macrophages to validate the genetic findings. E quantification of intracellular NECTIN2, F TREM2 and G extracellular sTREM2 protein levels. n = 15 from 4 independent experiments. ns: not significant, * p < 0.05, **** p < 0.0001