Fig. 6 | Signal Transduction and Targeted Therapy

Fig. 6

From: Single-cell RNA-seq reveals cell type-specific molecular and genetic associations with primary open-angle glaucoma

Fig. 6

Cell type-specific eQTL mapping reveals context-dependent genetic regulation of immune cells in POAG. a Manhattan plots of cis-eQTL associations (–log₁₀[FDR]) for five major PBMC populations (CD4⁺ T, CD8⁺ T, NK, B, and myeloid cells) in POAG patients and controls. The top disease- or control-specific loci and genes are highlighted. b Quantitative summary of uniquely detected eQTLs across cell types in POAG patients. Bar plots show the total number of uniquely detected SNPs in POAG patients, significant SNP–gene pairs, regulated genes, and LD groups, stratified by cis- and trans-eQTLs. Trans-eQTLs constitute the majority of uniquely detected regulatory events in POAG patients, with myeloid and CD4⁺ T cells exhibiting the highest counts. c–f Representative locus-level analyses of CD4⁺ T cells (c), CD8⁺ T cells (d), myeloid cells (e), and B cells (f) in POAG and control samples. For each locus, the upper panel shows the –log₁₀[P] values for SNP‒gene associations, the middle panel displays the LD region and variant density. POAG-specific eQTL signatures are observed at key immune loci, including ICAM4, NOTCH3, JAK3, CD177, SIGLEC8, the MS4A gene cluster, and VEGFB, with regulatory architectures distinct from those of controls

Back to article page