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); R1441G_T (rs33939927); R1441G_G (rs33939927)

SNCA: A53T (rs104893877); G51D (rs431905511); E46K (rs104893875); A30P (rs104893878)

APOE: 388T_C (rs429358); 526C_T (rs7412)

Targeted Proteomics Data

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.