Release 3 WGS Samples by Cohort
Processed WGS Totals for PD Cases and Controls
| PD Case | Control (Asymptomatic Individuals) | Others | ||||
|---|---|---|---|---|---|---|
| With Known Mutations | No Known Mutations | With Known Mutations | No Known Mutations | With Known Mutations | No Known Mutations | |
| BioFIND | 24 | 75 | 22 | 48 | 2 | 1 |
| HBS | 204 | 435 | 146 | 385 | 0 | 3 |
| LBD | 0 | 0 | 541 | 1424 | 1367 | 1247 |
| LCC | 181 | 61 | 203 | 154 | 0 | 0 |
| PDBP | 278 | 573 | 145 | 355 | 38 | 111 |
| PPMI | 591 | 350 | 558 | 172 | 83 | 53 |
| SURE-PD | 90 | 169 | 0 | 0 | 0 | 0 |
| STEADY-PD3 | 101 | 227 | 0 | 0 | 0 | 0 |
| Total | 1469 | 1890 | 1615 | 2538 | 1490 | 1415 |
WGS Known Sample Mutations
GBA: N370S (rs76763715); T369M (rs75548401); E326K (rs2230288)
LRRK2: G2019S (rs34637584); R1441C_T (rs33939927); R1441G_G (rs33939927)
SNCA: A53T (rs104893877); G51D (rs431905511); E46K (rs104893875); A30P (rs104893878)
APOE: 388T_C (rs429358); 526C_T (rs7412)
Additional participant variant data is now available in AMP PD Tier 2 data identifying the APOE genotype for all AMP PD participants. Apolipoprotein (Apo) E is produced under the direction of the APOE gene and is one of five main types of blood lipoproteins (A-E). AMP PD has evaluated participant’s WGS data to determine what combination of APOE forms (genotype) is present. The APOE gene exists in three different forms (alleles) – e2, e3, and e4 – with e3 being the most common allele, found in 60% of the general population.
AMP PD’s public dataset includes 3,095 participants with at least one copy of the APOE E4 gene, and 327 participants with two copies.