Journal: Alzheimer's & Dementia

Article Title: Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease

doi: 10.1002/alz.71217

Figure Lengend Snippet: Visual summary of MR findings for PSMC3 . A, GReX of PSMC3 is associated with the volume of the ventral diencephalon according to three different gene expression models trained in the caudate, putamen, and cerebellum. PSMC3 encodes the protein Rpt5, which acts as an ATPase involved in substrate translocation in the 26S proteasome complex. PSMC3 expression levels from bulk RNAseq associated with (B) global cognition score at last visit, (C) longitudinal global cognition trajectory, and (D) amyloid beta deposition. The x axis in the volcano plot represents the adjusted R 2 value derived from the regression analyses. PSMC3 expression levels from snRNAseq associated with AD case/control status in (E) CUX2− and (F) CUX2+ excitatory neurons. The x axis represents the log‐fold change of PSMC3 expression between AD cases and normal controls. The y axis in (B–F) represents the −log 10 P values. The blue dots represent significant P values ( P FDR < 0.05), the green dots represent nominally significant P values, and the gray dots represent non‐significant P values. The red dots and arrows highlight PSMC3 . AD, Alzheimer's disease; CN, caudate nucleus; DLPFC, dorsolateral prefrontal cortex; FDR, false discovery rate; GreX, genetically regulated gene expression; JTI, joint tissue imputation; MR, Mendelian randomization; PCC, posterior cingulate cortex; RNAseq, RNA sequencing; snRNAseq, single‐nucleus RNA sequencing.

Article Snippet: The Human Protein Atlas (HPA) provides bulk RNAseq data across 253 different tissues, encompassing 19,023 genes.

Techniques: Gene Expression, Translocation Assay, Expressing, RNA sequencing, Derivative Assay, Control, RNA Sequencing