Table 3 |.
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 4–5, Supplementary Tables 8–9.