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. 2022 Jul 6;5:670. doi: 10.1038/s42003-022-03610-7

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.