Table 2.
Non-pathogenic CNVs in 1kGP and AMP-PD cohorts.
1kGP | PD | LBD | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
European | African | Other | European | African | Other or unknown | European | |||||
Control | Control | Control | Case | Control | Case | Control | Case | Control | Case | Control | |
CNL | 2 | 3 | 9 | 8a | 7 | 0 | 0 | 0 | 0 | 13c | 13 |
CNG | 1 | 74 | 18 | 11b | 6 | 1 | 2 | 0 | 1 | 21d | 11e |
Total | 503 | 661 | 1340 | 2227 | 1213 | 22 | 27 | 76 | 15 | 2598 | 1941 |
aThree out of the eight PD cases with non-pathogenic CN losses also have a pathogenic GBA variant (two samples have p.L483P and one sample has p.N409S).
bFour out of the 11 PD cases with CN gains also have a pathogenic GBA variant (three samples have p.L483P and one sample has p.N409S).
cOne out of the 13 LBD cases with non-pathogenic CN losses also has a pathogenic GBA variant, p.L483P.
dFive out of the 21 LBD cases with CN gains also have a pathogenic or PD-related GBA variant (p.L483P, p.D448H, c.1263del+RecTL, p.T408M, and compound heterozygote p.L483P/p.D448H).
eOne out of 11 LBD controls with CN gains also has a PD-related GBA variant, p.T408M.