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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