Table 1. Association of common LRRK2 variants with risk of PSP and CBD.
| PSP patients vs. controls | CBD patients vs. controls | ||||||||
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Variant | Amino Acid |
MAa | MAFb in controls (N=1790) |
MAFb in PSP (N=996) |
ORc (95% CId) |
P-value | MAFb in CBD (N=134) |
ORc (95% CId) |
P-value |
| rs10878245 | L153L | T | 38.2% | 41.4% | 1.22 (1.04, 1.44) | 0.014 | 41.4% | 1.42 (0.97, 2.08) | 0.065 |
| rs7308720 | N551K | G | 7.6% | 7.1% | 0.92 (0.73, 1.15) | 0.44 | 8.6% | 1.06 (0.65, 1.73) | 0.81 |
| rs10878307 | I723V | G | 7.7% | 7.3% | 0.93 (0.74, 1.16) | 0.51 | 9.0% | 1.13 (0.69, 1.85) | 0.62 |
| rs7966550 | L953L | C | 12.6% | 12.7% | 1.04 (0.86, 1.24) | 0.72 | 13.4% | 1.28 (0.85, 1.91) | 0.24 |
| rs7133914 | R1398H | A | 7.4% | 7.1% | 0.94 (0.75, 1.18) | 0.60 | 8.6% | 1.09 (0.67, 1.77) | 0.74 |
| rs11175964 | K1423K | A | 7.3% | 7.1% | 0.97 (0.77, 1.21) | 0.76 | 8.2% | 1.06 (0.64, 1.74) | 0.83 |
| rs35507033 | R1514Q | A | 0.8% | 0.5% | 0.59 (0.28, 1.26) | 0.17 | 0.7% | 0.99 (0.23, 4.29) | 0.98 |
| rs33958906 | P1542S | T | 2.8% | 2.9% | 1.03 (0.73, 1.44) | 0.88 | 1.9% | 0.62 (0.25, 1.57) | 0.31 |
| rs1427263 | G1624G | C | 35.1% | 34.3% | 1.00 (0.86, 1.17) | 0.98 | 35.8% | 1.13 (0.79, 1.63) | 0.50 |
| rs11176013 | K1637K | A | 45.1% | 45.2% | 1.07 (0.90, 1.26) | 0.46 | 45.5% | 1.08 (0.73, 1.59) | 0.70 |
| rs35303786 | M1646T | C | 1.3% | 1.4% | 1.03 (0.63, 1.68) | 0.90 | 1.5% | 1.12 (0.39, 3.19) | 0.84 |
| rs11564148 | S1647T | A | 30.4% | 31.0% | 1.02 (0.87, 1.19) | 0.79 | 30.6% | 0.98 (0.69, 1.40) | 0.92 |
| rs10878371 | G1819G | T | 45.1% | 44.5% | 1.01 (0.86, 1.20) | 0.87 | 44.8% | 1.01 (0.69, 1.48) | 0.97 |
| rs33995883 | N2081D | G | 1.9% | 2.3% | 1.24 (0.84, 1.82) | 0.29 | 2.6% | 1.51 (0.67, 3.39) | 0.32 |
| rs10878405 | E2108E | A | 31.0% | 31.4% | 1.02 (0.88, 1.20) | 0.77 | 31.7% | 1.16 (0.82, 1.66) | 0.40 |
| rs33962975 | G2385G | G | 14.1% | 14.4% | 1.01 (0.85, 1.21) | 0.90 | 13.1% | 0.86 (0.57, 1.31) | 0.48 |
| rs3761863 | M2397T | T | 34.5% | 34.1% | 1.04 (0.89, 1.21) | 0.66 | 35.4% | 1.20 (0.84, 1.72) | 0.32 |
| rs76904798 | N/A | T | 14.0% | 14.8% | 1.04 (0.87, 1.24) | 0.69 | 10.5% | 0.70 (0.45, 1.08) | 0.10 |
a
MA=minor allele;
b
MAF=minor allele frequency;
c
OR=odds ratio;
d
CI=confidence interval. ORs, 95% CIs, and p-values result from logistic regression models adjusted for age (age at death in PSP/CBD patients, age at last follow-up in controls) and gender.
LRRK2 variants were examined under a dominant model; ORs correspond to presence of the minor allele. After applying a single-step minP permutation adjustment for multiple testing, p-values ≤ 0.0036 (PSP vs. controls) and ≤ 0.0038 (CBD vs. controls) were considered as statistically significant.