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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