Background
Methods
Sample
Case (N = 545)a
| Control (N = 426) | ||||
---|---|---|---|---|---|
n | % | n | % | p | |
Gender
| 0.490 | ||||
Female | 266 | 49 | 197 | 47 | |
Male | 279 | 51 | 226 | 53 | |
Race
| -- | ||||
Caucasian | 545 | 100 | 426 | 100 | |
Age
b
|
< 0.001
| ||||
Median(Min, Max) | 76(44,98) | 73(33,92) | |||
Mean(SD) | 75.4(8.0) | 72(10.7) | |||
Clinical Diagnosis
| |||||
PSP | 468 | 87 | |||
Otherc
| 68 | 13 | |||
Falls
| |||||
Yes | 482 | 99 | |||
No | 3 | 1 | |||
Dementia
| |||||
Yes | 278 | 82 | |||
No | 62 | 18 | |||
Eye Mov. Abn. | |||||
Yes | 349 | 96 | |||
No | 13 | 4 | |||
Rigidity
| |||||
Yes | 374 | 98 | |||
No | 9 | 2 | |||
Instability
| |||||
Yes | 454 | 99 | |||
No | 4 | 1 | |||
Dysarthria
| |||||
Yes | 370 | 97 | |||
No | 10 | 3 | |||
Dysphagia
| |||||
Yes | 352 | 92 | |||
No | 31 | 8 | |||
AD Path. | |||||
Yes | 50 | 9 | |||
No | 495 | 91 | |||
Family History
| |||||
Yes | 322 | 73 | |||
No | 121 | 27 |
Genotyping
Total n | Total n | n-controls | n-cases | p | q | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNP rs marker (gene name) | Controls (freq)a
| Cases (freq)a
| 0 | 1 | 2 | 0 | 1 | 2 | OR | CI | trend | recess. | dom. | Holm |
rs1135840 | 395 | 500 | 133 | 183 | 79 | 145 | 240 | 115 | 1.14 | 0.94-1.37 | 0.174 | 0.367 | 0.188 | 1 |
(CYP2D6) | 0.44 | 0.56 | 0.34 | 0.56 | 0.2 | 0.39 | 0.5 | 0.23 | ||||||
rs3738136 | 412 | 521 | 375 | 36 | 1 | 469 | 48 | 4 | 1.11 | 0.73-1.7 | 0.625 | 0.338 | 0.78 | 1 |
(PINK-1) | 0.44 | 0.56 | 0.91 | 0.19 | 0 | 0.9 | 0.19 | 0.01 | ||||||
rs1043424 | 414 | 520 | 217 | 165 | 32 | 281 | 208 | 31 | 0.89 | 0.72-1.1 | 0.27 | 0.19 | 0.478 | 1 |
(PINK-1) | 0.44 | 0.56 | 0.52 | 0.4 | 0.18 | 0.54 | 0.4 | 0.16 | ||||||
rs2234694 | 412 | 521 | 372 | 38 | 2 | 478 | 41 | 2 | 0.84 | 0.54-1.28 | 0.411 | 0.813 | 0.408 | 1 |
(SOD1) | 0.44 | 0.56 | 0.9 | 0.19 | 0 | 0.92 | 0.18 | 0 | ||||||
rs4880 | 413 | 523 | 107 | 206 | 100 | 116 | 264 | 143 | 1.14 | 0.95-1.38 | 0.157 | 0.22 | 0.279 | 1 |
(SOD2) | 0.44 | 0.56 | 0.36 | 0.5 | 0.24 | 0.22 | 0.5 | 0.37 | ||||||
rs662 | 414 | 521 | 211 | 160 | 43 | 256 | 217 | 48 | 1.03 | 0.85-1.26 | 0.757 | 0.65 | 0.497 | 1 |
(PON1) | 0.44 | 0.56 | 0.51 | 0.49 | 0.1 | 0.59 | 0.42 | 0.09 | ||||||
rs854560 | 412 | 521 | 181 | 176 | 55 | 213 | 242 | 66 | 1.02 | 0.84-1.23 | 0.875 | 0.661 | 0.606 | 1 |
(PON1) | 0.44 | 0.56 | 0.44 | 0.43 | 0.13 | 0.41 | 0.56 | 0.13 | ||||||
rs705381 | 409 | 523 | 231 | 148 | 30 | 293 | 201 | 29 | 0.98 | 0.79-1.21 | 0.845 | 0.355 | 0.831 | 1 |
(PON1) | 0.44 | 0.56 | 0.6 | 0.46 | 0.11 | 0.66 | 0.48 | 0.16 | ||||||
rs7493 | 413 | 523 | 237 | 148 | 28 | 315 | 181 | 27 | 0.9 | 0.73-1.12 | 0.349 | 0.265 | 0.535 | 1 |
(PON2) | 0.44 | 0.56 | 0.67 | 0.46 | 0.17 | 0.6 | 0.45 | 0.15 | ||||||
rs12026 | 412 | 521 | 237 | 147 | 28 | 314 | 180 | 27 | 0.9 | 0.73-1.12 | 0.364 | 0.267 | 0.558 | 1 |
(PON2) | 0.44 | 0.56 | 0.68 | 0.46 | 0.17 | 0.6 | 0.45 | 0.15 | ||||||
rs1052553
|
406
|
324
|
231
|
148
|
27
|
281
|
40
|
3
|
0.23
|
0.16-0.32
|
< 0.001
|
0.001
|
< 0.001
|
< 0.001
|
(MAPT) | 0.56 | 0.44 | 0.67 | 0.46 | 0.17 | 0.97 | 0.12 | 0.01 |
Data analysis
Results
Allele | MAF | Controls | q | Cases | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Marker | Mn/Mj | popa
| MAF | CI | p | Holm | MAF | CI | p | q |
rs1135840 | G/C | 0.43 | 0.432 | 0.40-0.47 | 0.954 | 1 | 0.47 | 0.44-0.50 | 0.012 | 0.081 |
rs3738136 | A/G | 0.06 | 0.046 | 0.03-0.06 | 0.109 | 0.543 | 0.054 | 0.04-0.07 | 0.432 | 1.000 |
rs1043424 | C/G | 0.34 | 0.277 | 0.25-0.31 | < 0.001 | 0.001 | 0.26 | 0.23-0.29 | < 0.001 | < 0.001 |
rs2234694 | C/A | 0.042 | 0.051 | 0.04-0.07 | 0.231 | 0.925 | 0.043 | 0.03-0.06 | 0.91 | 1.000 |
rs4880 | C/T | 0.45 | 0.492 | 0.46-0.53 | 0.018 | 0.145 | 0.526 | 0.50-0.56 | < 0.001 | < 0.001 |
rs662 | G/A | 0.33 | 0.297 | 0.27-0.33 | 0.048 | 0.337 | 0.3 | 0.27-0.33 | 0.046 | 0.273 |
rs854560 | T/A | 0.38 | 0.347 | 0.31-0.38 | 0.056 | 0.337 | 0.359 | 0.33-0.39 | 0.171 | 0.854 |
rs705381 | T/C | 0.18 | 0.254 | 0.23-0.29 | < 0.001 | < 0.001 | 0.248 | 0.22-0.28 | < 0.001 | < 0.001 |
rs7493 | G/C | 0.24 | 0.247 | 0.22-0.28 | 0.668 | 1 | 0.225 | 0.20-0.25 | 0.261 | 1.000 |
rs12026 | G/C | 0.24 | 0.246 | 0.22-0.28 | 0.699 | 1 | 0.225 | 0.20-0.25 | 0.258 | 1.000 |
rs1052553 | G/Ab
| 0.21 | 0.249 | 0.22-0.28 | 0.008 | 0.068 | 0.071 | 0.05-0.09 | < 0.001 | < 0.001 |
Controls(N = 426) | Cases (N = 545) | ||||||
---|---|---|---|---|---|---|---|
NAT1 Genotype | n | % | n | % | OR | CI | p |
NAT1*4/*4
| 211 | 50.8 | 268 | 49.7 | 1 | ||
NAT1*10/*11A
| 4 | 1.0 | 5 | 0.9 | 1.03 | 0.26-4.35 | 0.967 |
NAT1*10/*10
| 14 | 3.4 | 22 | 4.1 | 1.22 | 0.61-2.52 | 0.583 |
NAT1*4/*3
| 13 | 3.1 | 23 | 4.3 | 1.50 | 0.74-3.14 | 0.271 |
NAT1*4/*14A or *10/*14B
| 13 | 3.1 | 19 | 3.5 | 1.25 | 0.60-2.66 | 0.552 |
NAT1*10/*14A
| 4 | 1.0 | 6 | 1.1 | 1.12 | 0.31-4.45 | 0.863 |
NAT1*4/*10
| 138 | 33.3 | 165 | 30.6 | 0.94 | 0.70-1.26 | 0.677 |
NAT1*4/*11A or *3/*11B
| 13 | 3.1 | 21 | 3.9 | 1.21 | 0.59-2.55 | 0.607 |
NAT1*10/*15
| 0 | 0.0 | 1 | 0.2 | -- | -- | -- |
NAT1*11A/*14A
| 0 | 0.0 | 1 | 0.2 | -- | -- | -- |
NAT1*3/*10
| 2 | 0.5 | 4 | 0.7 | 1.65 | 0.32-12.10 | 0.567 |
NAT1*3/*14A
| 0 | 0.0 | 1 | 0.2 | -- | -- | -- |
NAT1*4/*11B
| 0 | 0.0 | 1 | 0.2 | -- | -- | -- |
NAT1*4/*15
| 3 | 0.7 | 2 | 0.4 | 0.37 | 0.05-2.39 | 0.298 |
Missing | 11 | 6 |
Controls(N = 426) | Cases(N = 545) | |||||||
---|---|---|---|---|---|---|---|---|
NAT2 Phenotype | n | % | n | % | OR | CI | p | q |
Slow
| 241 | 56.6 | 299 | 54.9 | 1 | - | - | - |
Intermediate
| 161 | 37.8 | 198 | 36.4 | 0.993 | 0.76-1.31 | 0.959 | 0.959 |
Rapid
| 19 | 4.5 | 42 | 7.7 | 1.82 | 1.04-3.30 | 0.042a | 0.084 |
Controls(N = 426) | Cases (N = 545) | |||||||
---|---|---|---|---|---|---|---|---|
NAT2 Genotype (phenotype) | n | % | n | % | OR | CI | p | q |
NAT2*4/*4 (rapid) | 19 | 4.5 | 42 | 7.7 | 1 | |||
NAT2*4/*5(intermediate)
|
108
|
25.4
|
116
|
21.3
|
0.49
|
0.26-0.88
|
0.021
| 0.168 |
NAT2*4/*6 (intermediate) | 49 | 11.5 | 69 | 12.7 | 0.6 | 0.30-1.16 | 0.133 | 0.532 |
NAT2*4/*7 (intermediate) | 4 | 0.9 | 13 | 2.4 | 1.43 | 0.43-5.65 | 0.576 | 1 |
NAT2*5/*6 (slow) | 106 | 24.9 | 130 | 23.9 | 0.55 | 0.29-0.99 | 0.053 | 0.318 |
NAT2*5/*7 (slow) | 5 | 1.2 | 10 | 1.8 | 0.86 | 0.26-3.10 | 0.809 | 1 |
NAT2*6/*6
(slow)
|
42
|
9.9
|
47
|
8.6
|
0.46
|
0.23-0.92
|
0.029
| 0.203 |
NAT2*6/*7 (slow) | 5 | 1.2 | 7 | 1.3 | 0.56 | 0.15-2.21 | 0.394 | 1 |
NAT2*5/*5 (slow) | 82 | 19.2 | 104 | 19.1 | 0.58 | 0.31-1.07 | 0.086 | 0.430 |
NAT2*5/*14 (slow) | 1 | 0.2 | 0 | 0 | -- | -- | -- | |
NAT2*6/*14 (slow) | 0 | 0 | 1 | 0.2 | -- | -- | -- | |
Missing | 5 | 6 | -- | -- | -- |
NAT2 Phenotype | Median(Min, Max) | Mean(SD) | p-values |
---|---|---|---|
Age at Onset | |||
Rapid | 68.5(51,85) | 68.5(8.5) | > 0.05 |
Intermediate | 68(41,89) | 68.1(8.6) | > 0.05 |
Slow | 68(47,90) | 67.9(8.1) | -- |
Age at Death | |||
Rapid | 75.5(58,89) | 75.3(7.9) | > 0.05 |
Intermediate | 76(44,98) | 75.3(8.3) | > 0.05 |
Slow | 76(53,95) | 75.4(7.9) | -- |
Disease Duration (yrs.) | |||
Rapida
| 6(2,12) | 6.6(2.2) | 0.025, 0.078, 0.028 |
Intermediateb
| 7(2,31) | 7.4(3.6) | 0.675 |
Slow | 7(0,27) | 7.5(3.3) | -- |