Table 1.
An overview of genetic factors associated with PD
| Gene | Protein | Frequency in PD | Environmental interactions | Pathogenic variants* | Presumed founder (years) |
| Autosomal dominant | |||||
| SNCA | Alfa-synuclein | < <1% | Paraquat | A30P | ? |
| Rotenone | E46K | ? | |||
| H50Q | ? | ||||
| G51D | ? | ||||
| A53T | ? | ||||
| LRRK2 | Leucine-rich repeat kinase 2 | ∼3% | Rotenone | G2019S | ? |
| Trichloroethylene | I2020T | ||||
| Paraquat | R1441C | ? | |||
| R1441G | ? | ||||
| R1441H | ? | ||||
| N1437H | ? | ||||
| Y1699C | ? | ||||
| VPS35 | Vacuolar protein sorting-associated protein 35 | <1% | Rotenone | D620N | ? |
| Autosomal recessive | |||||
| Parkin | Parkin | ∼1% | Paraquat, | R42P | 7,715 |
| Rotenone | V65E | ? | |||
| K211N | ? | ||||
| C212Y | ? | ||||
| T415N | ? | ||||
| C431F | ? | ||||
| C441R | ? | ||||
| T240R | ? | ||||
| R275W | 4,358 | ||||
| G430D | ? | ||||
| PINK1 | PTEN induced putative kinase 1 | <1% | Rotenone, | G309D | ? |
| MPTP | Q456X | ? | |||
| L347P | ? | ||||
| G411S | ? | ||||
| W437X | ? | ||||
| M261I | ? | ||||
| DJ-1 | Protein deglycase DJ-1 | < <1% | Rotenone | L166P | ? |
| A104T | ? | ||||
| Risk factor | |||||
| GBA1 | Glucocerebrosidase | 5-15% | MPTP | E326K | 12,525 |
| Rotenone | N370S | 7,003 | |||
| L444P | 15,010 | ||||
| D140H | ? | ||||
| T369M | ? | ||||
| LRRK2 | Leucine-rich repeat kinase 2 | 5–10% | ? | G2385R | 17,943 |
| GWAS risk variant | Intergenic variant (i.e., non-protein-coding) | ∼50% | ? | rs6658353 | 1,036,045 |
| Example unrelated to PD | |||||
| LRRK2 | Leucine-rich repeat kinase 2 (benign) | M2397T | 888,858 | ||
This table provides an overview of genetic factors associated with PD, including their environmental interactions and estimated age based on human genome dating database [18]. *A selection of the most common pathogenic variants. For most genes several to tens of other variants exist, but for GBA1 over 400 pathogenic variants have been reported thus far [17].