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[Preprint]. 2023 Sep 26:2023.07.21.23292993. Originally published 2023 Jul 23. [Version 2] doi: 10.1101/2023.07.21.23292993

Table 3 |.

Summary of tissue and cell type specificity analyses

Tissue specific associations Human brain cell type associations

Neurological diseases

ALZ Upregulated in the spleen, terminal ileum of the small intestine and whole blood Microglia
GGE - GABAergic and excitatory neurons
MS Upregulated in EBV-transformed lymphocytes, the spleen, whole blood and the terminal ileum of the small intestine Microglia and endothelial cells
PD Upregulated in the substantia nigra -

Psychiatric disorders
ADHD Upregulated in the cerebral cortex GABAergic and excitatory neurons
AN Downregulated in the putamen and hippocampus -
BD - GABAergic and excitatory neurons
MDD Upregulated in multiple brain tissues GABAergic neurons and oligodendrocyte progenitor cells
SCZ Upregulated in multiple brain tissues GABAergic and excitatory neurons
Comparators

COG Upregulated in multiple brain tissues Downregulated in the renal cortex GABAergic and excitatory neurons
CAD - Vascular cells
CRT-SA - Oligodendrocytes, astrocytes, stem cells, and microglia
CRT-TH Upregulated in the cerebellar hemisphere -
IBD Upregulated in the spleen and whole blood Downregulated in multiple central nervous tissues Microglia and endothelial cells
Height Up- and downregulated in multiple tissues body-wide Vascular cells, endothelial cells, astrocytes, oligodendrocytes, and microglia
T2D Downregulated in multiple central nervous tissues Vascular cells, endothelial cells, astrocytes, oligodendrocytes, and microglia

Summary of tissue and cell type specific analyses using FUMA72,77, only significant associations after Bonferroni correction are described. Tissue analysis was based on GTEx data76, while cell type analysis was based on 24 single-cell RNA sequencing data sets from the developing and adult human brain77. For full results, see Supplementary Results, Supplementary Figures 45, Supplementary Tables 89.