Fig. 4: Brain cell-type specific expression of the SORL1 from Korean single-nucleus RNA-seq.

a UMAP colored by major brain single-cell types. b UMAP plot colored by Aβ positivity across single-cell types. The red represents Aβ-positive and blue represents Aβ-negative. c SORL1 gene expression across single-cell types colored by z-scored expression levels. The red indicates higher gene expression, and the blue indicates lower expression. d Box plots for differential gene expression of SORL1 by Aβ positivity in single-cell types. Aβ positivity was defined based on the CERAD neuropathological category. Differential gene expression analysis was performed using MAST (v1.16.0) and brain cell-type-specific gene expression data from 15 Korean individuals (nine Aβ-positive and six Aβ-negative individuals). The asterisk indicates a significant result obtained from the likelihood ratio test that meets the threshold of a false discovery rate-corrected p value < 0.05, calculated using the Benjamini–Hochberg correction from two-sided tests. This box plot illustrates the differential expression of SORL1 across major brain cell types, grouped by Aβ positivity (positive in red and negative in blue). On the box plots, the horizontal line indicates the median, the box indicates the first to third quartile of expression and whiskers indicate 1.5 × the interquartile range. The x-axis represents various cell types, and the y-axis represents SORL1 log normalization expression. Source data are provided as a Source Data file. UMAP uniform manifold approximation, and projection, UMI unique molecular identifiers, MG microglia, OD oligodendrocytes, IN inhibitory neurons, OPC oligodendrocyte precursor cells, End endothelial cells, Ast astrocytes, Ext excitatory neurons, ns non-significant, CERAD Consortium to Establish a Registry for Alzheimer’s disease.