Biological function (UniProt database) and tissue expression (GTEx database) of significant PEA CSF biomarkers
CSF biomarker | Olink panel | Associated gene (chromosomal location) | Biological function | Tissue with highest expression (median TPM) | Brain region with highest expression (median TPM) |
FGF-5 (fibroblast growth factor 5) | Inflammation | FGF5 (4q21.21) | Regulation of cell proliferation and cell differentiation | Fibroblasts (18.9) | Cerebellum (6.0) |
MSR1 (macrophage scavenger receptor 1) | Neurology | MSR1 (8p22.1) | A membrane glycoprotein implicated in the pathological deposition of cholesterol in arterial walls during atherogenesis | Lung (33.2) | Hypothalamus (1.0) |
VWC2 (von Willebrand factor C domain-containing protein 2) | Neurology | VWC2 (7p12.2) | Bone morphogenetic protein antagonist which may play a role in neural development | Cerebellum (24.4) | Cerebellum (24.4) |
VEGF-A (vascular endothelial growth factor A) | Inflammation | VEGFA (6p21.1) | Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth | Thyroid (613.1) | Cerebellum (39.7) |
ADAM22 (disintegrin and metalloproteinase domain-containing protein 22) | Neurology | ADAM22 (7p21.12) | Regulation of cell adhesion and inhibition of cell proliferation | Cerebellum (87.4) | Cerebellum (87.4) |
DNER (delta and notch-like epidermal growth factor-related receptor) | Inflammation | DNER (2q36.3) | Activator of the NOTCH1 pathway. May mediate neuron–glia interaction during astrocytogenesis | Substantia nigra (124.9) | Substantia nigra (124.9) |
UNC5C (netrin receptor) | Neurology | UNC5C (4q22.3) | Mediates axon repulsion of neuronal growth cones in the developing nervous system | Thyroid (11.7) | Cervical cord (8.2) |
ADAM23 (disintegrin and metalloproteinase domain-containing protein 23) | Neurology | ADAM23 (2q33.3) | May play a role in cell–cell and cell–matrix interactions | Frontal cortex (45.5) | Frontal cortex (45.5) |
SPOCK1 (testican 1) | Neurology | SPOCK1 (5q31.2) | May play a role in cell–cell and cell–matrix interactions | Cerebellum (314.3) | Cerebellum (314.3) |
N2DL-2 (UL16-binding protein 2) | Neurology | ULBP2 (6q25.1) | Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cytotoxicity | Fibroblasts (9.6) | Cerebellum (5.0) |
FGF-19 (fibroblast growth factor 19) | Inflammation | FGF19 (11q13.3) | Involved in the suppression of bile acid biosynthesis through downregulation of CYP7A1 expression | Testis (0.5) | Cerebellum (0.4) |
CSF, cerebrospinal fluid; PEA, proximity extension assay; TPM, transcripts per kilobase million.