Table 2:
Summary of evidence for proteins and genes identified through Multivariable Mendelian Randomization.
| Protein | Plasma pQTL |
Colocalized IDP | ROSMAP pQTL-IDP assoc. |
MetaBrain eQTL-IDP assoc. |
Disease-plasma pQTL assoc. |
Control subjects single cell eQTL* |
All subjects single cell eQTL* |
|---|---|---|---|---|---|---|---|
| APOE | UKB-PPP Cis | Right Ventral Striatum Gray Matter Volume (+) | Insig. | n/a | Alzhiemer's Disease (−) Multiple Sclerosis (−) |
Endothelial (−) Excitatory Neurons (+) Inhibitory Neurons (−) Oligodendrocyte Precursor (+) Oligodendrocytes (+) |
Astrocytes (−) Excitatory Neurons (+) Inhibitory Neurons (+) Oligodendrocyte Precursor (−) Pericytes (−) |
| ARL3 | deCODE Cis | Cortical Gray Matter Volume (+) Left Superior Corona Radiata Fractional Anisotropy (+) |
(+) (+) |
(+) (+) |
Biploar Disorder (+) Glioma (+) Schizophrenia (+) |
Excitatory Neurons (−) Inhibitory Neurons (−) Microglia (+) Oligodendrocyte Precursor (−) |
Astrocytes (−) Excitatory Neurons (−) Oligodendrocyte Precursor (−) Oligodendrocytes (−) |
| MICB | deCODE Cis | Left Uncinate Fasciculus Mean Diffusivity (+) Left Superior Longitudinal Fasciculus Axial Diffusivity (+) Left Uncinate Fasciculus Radial Diffusivity (+) |
n/a | n/a | Biploar Disorder (+) Schizophrenia (+) |
Astrocytes (+) Excitatory Neurons (−) Inhibitory Neurons (−) Microglia (−) Oligodendrocyte Precursor (+) Oligodendrocytes (−) Pericytes (−) |
Astrocytes (+) Endothelial (+) Excitatory Neurons (−) Inhibitory Neurons (+) Microglia (−) Oligodendrocyte Precursor (−) Oligodendrocytes (+) Pericytes (−) |
| NSF | deCODE Cis | Left Postcentral Gyrus Area (−) Right Caudal Anterior Cingulate Area (−) Right Medial Orbitofrontal Cortex Area (−) Left Superior Frontal Gyrus Mean Cortical Thickness (+) |
(−) (−) (−) (+) |
(−) (−) (−) (+) |
Alzhiemer's Disease (−) Parkinson's Disease (−) |
Astrocytes (+) Excitatory Neurons (+) Inhibitory Neurons (+) Microglia (−) Oligodendrocyte Precursor (+) Oligodendrocytes (+) |
Astrocytes (+) Endothelial (+) Excitatory Neurons (+) Inhibitory Neurons (+) Oligodendrocyte Precursor (+) Oligodendrocytes (+) Pericytes (+) |
| RHOC | UKB-PPP Cis | Left Pericalcarine Area (−) Left Intracalcarine Cortex Grey Matter Volume (−) Right Intracalcarine Cortex Grey Matter Volume (−) |
(+) (+) (+) |
n/a | Glioma (+) Major Depressive Disorder (−) |
||
| RSPO3 | deCODE Cis | Right Medial Lemniscus Axial Diffusivity (−) | n/a | n/a | Amyotrophic Lateral Sclerosis (−) Schizophrenia (−) |
Astrocytes (−) Inhibitory Neurons (+) Microglia (+) Oligodendrocytes (−) Pericytes (+) |
Endothelial (−) Excitatory Neurons (−) Pericytes (+) |
| ENPP2 | deCODE Cis | Right Fornix Cres and Stria Terminalis Diffusion Tensor Mode (+) | n/a | n/a | Bipolar Disorder (−) | Endothelial (+) Oligodendrocyte Precursor (−) |
Endothelial (−) Oligodendrocyte Precursor (+) Oligodendrocytes (+) |
| BTN2A1 | UKB-PPP Cis | Left Anterior Corona Radiata Radial Diffusivity (−) | (+) | n/a | Biploar Disorder (−) Schizophrenia (−) |
Astrocytes (+) Endothelial (+) Excitatory Neurons (+) Microglia (+) Oligodendrocytes (+) Oligodendrocyte Precursor (−) Pericytes (+) |
Astrocytes (+) Endothelial (+) Excitatory Neurons (+) Inhibitory Neurons (+) Microglia (+) Oligodendrocytes (+) Pericytes (+) |
| EIF2AK3 | UKB-PPP Cis | Right IX Cerebellum Grey Matter Volume (−) Middle Cerebellar Peduncle Axial Diffusivity (+) Right Anterior Limb of Internal Capsule Axial Diffusivity (+) Left Anterior Limb of Internal Capsule Axial Diffusivity (+) |
n/a | Insig. | Multiple Sclerosis (−) | Excitatory Neurons (−) Pericytes (−) |
Endothelial (−) Excitatory Neurons (−) Oligodendrocyte Precursor (−) |
| MVRI1 | deCODE Cis | Right Anterior Limb of Internal Capsule Mean Diffusivity (−) | n/a | n/a | Glioma (−) | n/a | n/a |
| OPLAH | UKB-PPP Cis | Genu of Corpus Callosum Fractional Anisotropy (+) Body of Corpus Callosum Fractional Anisotropy (+) Genu of Corpus Callosum Axial Diffusivity (−) Body of Corpus Callosum Axial Diffusivity (−) |
(−) Insig. (+) Insig. |
n/a | Bipoloar Disorder (+) Multiple Sclerosis (−) |
Astrocytes (+) Endothelial (+) Excitatory Neurons (+) |
IDP: imaging derived phenotype; pQTL: protein quantitative loci; eQTL: expression quantitative loci.