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Table 4 Comparison of clinical features in carriers and non-carriers of different GCH1 variants in the WGS cohort

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

Clinical features Deleterious variants rs12323905
Carriers Non − carriers β / OR P value Carriers Non − carriers β / OR P value
Age at onset (years) a 58.90 ± 3.70 61.90 ± 6.94 −4.24 0.048 61.81 ± 6.94 61.89 ± 6.79 0.07 0.76
Age at assessment (years) a 61.25 ± 3.90 66.85 ± 7.07 −4.24 0.048 66.77 ± 7.10 66.66 ± 6.87 0.07 0.76
Disease duration (years) b 2.35 ± 1.42 4.92 ± 3.60 −1.76 0.11 4.93 ± 3.70 4.73 ± 3.32 0.14 0.25
UPDRS−Part I 3.00 ± 2.05 2.60 ± 2.08 0.61 0.35 2.58 ± 2.07 2.57 ± 1.95 0.02 0.72
UPDRS−Part II 12.30 ± 6.98 12.34 ± 6.37 2.13 0.25 12.23 ± 6.35 12.27 ± 6.24 −0.05 0.80
UPDRS−Part III 26.4 ± 19.07 27.76 ± 14.04 2.08 0.62 27.53 ± 14.04 27.90 ± 13.77 0.02 0.96
Tremor score 2.90 ± 2.51 3.45 ± 3.43 −0.13 0.90 3.40 ± 3.37 3.59 ± 3.44 −0.08 0.47
Stiffness score 5.80 ± 5.05 5.57 ± 4.12 0.53 0.68 5.48 ± 4.13 5.70 ± 4.06 −0.02 0.87
Bradykinesia score 10.00 ± 7.38 10.22 ± 6.11 0.92 0.63 10.12 ± 6.09 10.33 ± 5.95 0.03 0.88
Postural instability score 4.40 ± 3.75 4.51 ± 2.93 1.03 0.22 4.54 ± 2.94 4.31 ± 2.88 0.10 0.25
Hoeh and Yahr stage 2.00 ± 0.82 2.03 ± 0.74 0.24 0.27 2.03 ± 0.74 2.01 ± 0.75 0.02 0.46
Dyskinesia 0.00% 10.00% 9.01% 9.05% 0.96 0.77
Freezing gait 10.00% 23.74% 0.58 0.61 21.92% 20.21% 1.02 0.84
Motor subtype
 Tremor-dominant 10.00% 21.77% 21.18% 22.67%
 Intermediate 30.00% 15.97% 4.16 0.22 15.59% 19.33% 0.89 0.32
 PIGD−dominant 60.00% 62.27% 2.76 0.35 63.23% 58.00% 1.05 0.61
MMSE 26.80 ± 3.52 25.56 ± 4.40 0.29 0.83 25.54 ± 4.37 25.77 ± 4.22 −0.11 0.44
PDSS 107.8 ± 21.35 112.40 ± 29.21 −10.02 0.27 113.3 ± 28.36 110.70 ± 30.45 1.58 0.10
RBDQ−HK 9.60 ± 11.76 16.07 ± 17.31 −3.69 0.50 15.94 ± 17.13 16.69 ± 18.17 −0.52 0.38
ESS 7.90 ± 4.75 8.42 ± 6.50 0.08 0.97 8.33 ± 6.49 8.43 ± 6.50 −0.03 0.90
HAMD 8.40 ± 5.97 6.03 ± 5.47 0.51 0.80 6.04 ± 5.54 6.11 ± 5.20 −0.04 0.84
HRS 19.60 ± 4.77 18.71 ± 6.93 13.27 0.08 18.62 ± 7.01 19.02 ± 6.717 −0.32 0.17
PFS 51.33 ± 18.53 46.46 ± 19.13 8.42 0.28 45.89 ± 19.14 47.89 ± 19.32 −1.72 0.03
SCOPA−AUT 13.43 ± 8.46 9.44 ± 7.22 6.11 0.02 9.54 ± 7.39 8.97 ± 6.71 0.20 0.46
  1. Results are from linear or logistic regression analyses adjusting for age, sex, BMI, and ancestry
  2. UPDRS Unified Parkinson’s disease rating scale, MMSE Mini-mental state examination, PDSS Parkinson’s disease sleep scale, RBDQ-HK Rapid eyes movement sleep behavior disorder questionnaire-Hong Kong, ESS Epworth sleepiness scale, HAMD 17-item Hamilton depression rating Scale, HRS Hyposmia rating Scale, SCOPA-AUT Scales for outcomes in Parkinson’s disease-autonomic, PDQ39 The 39-item Parkinson’s disease Questionnaire, PFS Parkinson’s disease fatigue scale
  3. aAdjusted for sex and disease duration at entry
  4. bAdjusted for sex and age at entry