Table 4. Association between each variant and dorsolateral and ventromedial putamen TH-ir in the subset of patients with any Parkinsonism (Parkinsonism predominant or dementia and Parkinsonism).
| Association with lateral putamen TH-ir | Association with medial putamen TH-ir | |||||
|---|---|---|---|---|---|---|
|
| ||||||
| Variant | Nearest gene | MAF | Regression coefficient (95% CI) | P-value | Regression coefficient (95% CI) | P-value |
| rs10788972 | TCEANC2 | 47% | -0.03 (-0.27, 0.21) | 0.81 | 0.09 (-0.21, 0.39) | 0.56 |
| rs35749011 | GBA/SYT11 | 3% | -0.07 (-0.48, 0.34) | 0.75 | 0.00 (-0.51, 0.52) | 0.99 |
| rs114138760 | GBA/SYT11 | 2% | 0.27 (-0.25, 0.78) | 0.31 | 0.35 (-0.30, 1.00) | 0.30 |
| rs823118 | RAB7L1/NUCKS1 | 45% | -0.11 (-0.34, 0.11) | 0.33 | 0.01 (-0.27, 0.29) | 0.95 |
| rs10797576 | SIPA1L2 | 14% | 0.18 (-0.06, 0.41) | 0.13 | 0.15 (-0.15, 0.45) | 0.32 |
| rs6430538 | ACMSD/TMEM163 | 42% | 0.06 (-0.15, 0.28) | 0.56 | 0.11 (-0.16, 0.38) | 0.41 |
| rs1955337 | STK39 | 12% | -0.05 (-0.28, 0.18) | 0.68 | 0.03 (-0.27, 0.32) | 0.85 |
| rs12637471 | MCCC1 | 20% | 0.04 (-0.18, 0.26) | 0.74 | -0.02 (-0.30, 0.25) | 0.87 |
| rs34311866 | TMEM175 | 24% | 0.09 (-0.12, 0.30) | 0.39 | 0.13 (-0.13, 0.40) | 0.33 |
| rs34884217 | TMEM175 | 8% | 0.09 (-0.21, 0.39) | 0.57 | 0.12 (-0.26, 0.50) | 0.53 |
| rs11724635 | BST1 | 44% | -0.05 (-0.28, 0.19) | 0.70 | -0.07 (-0.36, 0.22) | 0.62 |
| rs6812193 | FAM47E/SCARB2 | 39% | 0.02 (-0.20, 0.24) | 0.84 | -0.14 (-0.41, 0.13) | 0.32 |
| rs356182 | SNCA | 34% | -0.08 (-0.30, 0.13) | 0.43 | -0.03 (-0.30, 0.24) | 0.82 |
| rs3910105 | SNCA | 50% | 0.06 (-0.18, 0.30) | 0.63 | 0.02 (-0.28, 0.33) | 0.88 |
| rs9275326 | HLA-DQB1 | 8% | -0.09 (-0.37, 0.20) | 0.56 | 0.00 (-0.37, 0.36) | 0.99 |
| rs13201101 | HLA-DQB1 | 5% | 0.05 (-0.30, 0.40) | 0.77 | 0.23 (-0.21, 0.67) | 0.30 |
| rs199347 | GPNMB | 39% | 0.09 (-0.12, 0.31) | 0.40 | 0.05 (-0.22, 0.32) | 0.73 |
| rs591323 | FGF20 | 26% | -0.15 (-0.36, 0.06) | 0.16 | -0.14 (-0.40, 0.13) | 0.31 |
| rs117896735 | INPP5F | 1% | 0.09 (-0.56, 0.74) | 0.78 | -0.43 (-1.25, 0.39) | 0.31 |
| rs329648 | MIR4697 | 36% | -0.12 (-0.33, 0.09) | 0.27 | -0.21 (-0.47, 0.05) | 0.12 |
| rs76904798 | LRRK2 | 13% | -0.04 (-0.29, 0.21) | 0.74 | -0.01 (-0.33, 0.30) | 0.94 |
| rs11060180 | CCDC62 | 48% | 0.05 (-0.19, 0.29) | 0.69 | 0.08 (-0.22, 0.38) | 0.58 |
| rs11158026 | GCH1 | 32% | -0.05 (-0.26, 0.16) | 0.65 | -0.17 (-0.43, 0.10) | 0.22 |
| rs2414739 | VPS13C | 28% | -0.02 (-0.23, 0.19) | 0.85 | -0.06 (-0.32, 0.20) | 0.65 |
| rs14235 | BCKDK/STX1B | 42% | -0.02 (-0.24, 0.20) | 0.83 | 0.15 (-0.12, 0.43) | 0.28 |
| rs11868035 | SREBF/RAI1 | 31% | 0.03 (-0.18, 0.24) | 0.78 | 0.03 (-0.24, 0.29) | 0.85 |
| rs17649553 | MAPT | 23% | 0.00 (-0.21, 0.22) | 0.97 | 0.02 (-0.25, 0.29) | 0.91 |
| rs12456492 | RIT2 | 32% | -0.11 (-0.32, 0.09) | 0.29 | -0.20 (-0.46, 0.06) | 0.14 |
| rs55785911 | DDRGK1 | 37% | -0.13 (-0.34, 0.09) | 0.24 | -0.06 (-0.32, 0.21) | 0.68 |
Regression coefficients; 95% CIs; and p-values result from linear regression models adjusted for age at death, sex, Braak stage and Thal phase. A regression coefficient above zero indicates that dorsolateral or ventromedial putamen TH-ir was higher for patients with a copy of the minor allele of the given variant. (After applying a Bonferroni correction for multiple testing, p-values of 0.0017 or lower are considered as statistically significant.) TH-ir = tyrosine hydroxylase immunoreactivity; MAF = minor allele frequency.