|
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
|
- Results are from linear or logistic regression analyses adjusting for age, sex, BMI, and ancestry
- 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
- aAdjusted for sex and disease duration at entry
- bAdjusted for sex and age at entry
