Table 4.
A list of common SNPs/genes in AD and PD with their possible role in the disease context specifically for AD and PD and generally for neurodegenerative diseases (NDD)
| Common SNPs in AD and PD | Gene | AD | PD | NDD |
|---|---|---|---|---|
| rs931977 (Intronic) | ERG2 | EGR2 targeted by mAChRs (muscarinic acetylcholine receptors), which is associated with cognitive functions, synaptic plasticity and memory | – | EGR2 is involved in myelination of peripheral nerves |
| EGR2 also associated with apoptosis | ||||
| rs2672893 (Intronic) | RPTOR | RPTOR is downstream of MTOR and is expressed highly in AD hippocampus | Alpha-synuclein reduced the activation of AMPK target RPTOR | – |
| RPTOR activates of PI3K-Akt pathway | ||||
| rs6488270 (Intergenic) | Downstream_variant for: TMEM52B | – | GABARAPL1 plays role in development and homeostasis of the mouse brain | GABARAPL1 presents a regulated tissue expression and is the most highly expressed gene among the family in the central nervous system |
| Upstream_variant for: GABARAPL1 | ||||
| rs4742095 (Intergenic) | Upstream_variant for: CD274 PLGRKT | PD1/PD-L1 (CD274) pathway have role in neuroinflammation of AD | – | PLGRKT is regulating plasminogen activation, which plays a key role in regulating catecholaminergic neurosecretory cell function |
| PD1/PD-L1 (CD274) pathway is associated with IL-10 production | ||||
| PLGRKT is also involved in macrophage recruitment in the inflammatory response | ||||
| PLGRKT is believed to have role in plasminogen binding and cell migration | ||||
| rs1984129 (Intergenic) | Downstream_variant for: GBP6 | – | – | LRRC8B is implicated in proliferation and activation of lymphocytes and monocytes |
| Upstream_variant for: LRRC8B | ||||
| rs10515758 (Intergenic) | Downstream_variant for: EBF1 | – | – | EBF1 have role in axonal pathfinding |
| Upstream_variant for: CLINT1 | CLINT1 interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the TGN and endosomes | |||
| rs6810871 (Intergenic) | Downstream_variant for: FAM114A1, TMEM156 | – | – | FAM114A1 plays a role in neuronal cell development |
| FAM114A1 expressed in dentate gyrus, the hippocampus, the cerebellum and the olfactory bulb | ||||
| Upstream_variant for: KLHL5, TLR6 |