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Table 1 Burden analysis of GCH1 coding variants

From: GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

Variant type

WES cohort

WGS cohort

Case (n = 1555)

Control (n = 2234)

P value

Case (n = 1962)

Control (n = 1279)

P value

All

25

11

0.0001

19

12

0.70

Synonymous

6

6

0.16

7

5

0.93

Loss of function

5

0

0.008

0

0

> 0.99

Missense

14

5

0.0009

12

7

0.55

Protein-altering

19

5

< 0.0001

12

7

0.55

Deleterious

19

3

< 0.0001

10

3

0.33

  1. Deleterious variants are predicted to be damaging or have previously been reported to be associated with PD or DRD. Loss of function indicates stop gain/loss, frameshift, and splicing mutations falling within two base pairs of exon-intron junctions. The protein-altering variants include missense and loss-of-function variants. The P values were analyzed by SKAT-O