Table 3

Biological function (UniProt database) and tissue expression (GTEx database) of significant PEA CSF biomarkers

CSF biomarkerOlink panelAssociated gene
(chromosomal location)
Biological functionTissue with highest expression (median TPM)Brain region with highest expression (median TPM)
FGF-5
(fibroblast growth factor 5)
InflammationFGF5
(4q21.21)
Regulation of cell proliferation and cell differentiationFibroblasts (18.9)Cerebellum (6.0)
MSR1
(macrophage scavenger receptor 1)
NeurologyMSR1
(8p22.1)
A membrane glycoprotein implicated in the pathological deposition of cholesterol in arterial walls during atherogenesisLung (33.2)Hypothalamus (1.0)
VWC2
(von Willebrand factor C domain-containing protein 2)
NeurologyVWC2
(7p12.2)
Bone morphogenetic protein antagonist which may play a role in neural developmentCerebellum (24.4)Cerebellum (24.4)
VEGF-A
(vascular endothelial growth factor A)
InflammationVEGFA
(6p21.1)
Growth factor active in angiogenesis, vasculogenesis and endothelial cell growthThyroid (613.1)Cerebellum (39.7)
ADAM22
(disintegrin and metalloproteinase domain-containing protein 22)
NeurologyADAM22
(7p21.12)
Regulation of cell adhesion and inhibition of cell proliferationCerebellum (87.4)Cerebellum (87.4)
DNER
(delta and notch-like epidermal growth factor-related receptor)
InflammationDNER
(2q36.3)
Activator of the NOTCH1 pathway. May mediate neuron–glia interaction during astrocytogenesisSubstantia nigra (124.9)Substantia nigra (124.9)
UNC5C
(netrin receptor)
NeurologyUNC5C
(4q22.3)
Mediates axon repulsion of neuronal growth cones in the developing nervous systemThyroid (11.7)Cervical cord (8.2)
ADAM23
(disintegrin and metalloproteinase domain-containing protein 23)
NeurologyADAM23
(2q33.3)
May play a role in cell–cell and cell–matrix interactionsFrontal cortex (45.5)Frontal cortex (45.5)
SPOCK1
(testican 1)
NeurologySPOCK1
(5q31.2)
May play a role in cell–cell and cell–matrix interactionsCerebellum (314.3)Cerebellum (314.3)
N2DL-2
(UL16-binding protein 2)
NeurologyULBP2
(6q25.1)
Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cytotoxicityFibroblasts (9.6)Cerebellum (5.0)
FGF-19
(fibroblast growth factor 19)
InflammationFGF19
(11q13.3)
Involved in the suppression of bile acid biosynthesis through downregulation of CYP7A1 expressionTestis (0.5)Cerebellum (0.4)
  • CSF, cerebrospinal fluid; PEA, proximity extension assay; TPM, transcripts per kilobase million.