Table 2.
Association of common LRRK2 variants with risk of clinical DLB and pathological high likelihood DLB
| Clinical DLB patients vs. controls | Pathological high likelihood DLB patients vs. controls | Combined disease group vs. controls | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Amino acid | MA | MAF in patients (N=416) | MAF in controls (N=1790) | OR (95% CI) | P-value | MAF in patients (N=354) | OR (95% CI) | P-value | MAF in patients (N=723) | OR (95% CI) | P-value |
| rs10878245 | L153L | T | 39.1% | 38.2% | 1.04 (0.83, 1.30) | 0.74 | 40.7% | 1.11 (0.87, 1.41) | 0.40 | 40.2% | 1.09 (0.91, 1.30) | 0.37 |
| rs7308720 | N551K | G | 5.5% | 7.6% | 0.73 (0.52, 1.03) | 0.067 | 6.5% | 0.85 (0.60, 1.19) | 0.34 | 6.0% | 0.78 (0.06, 1.02) | 0.062 |
| rs10878307 | I723V | G | 8.3% | 7.7% | 1.07 (0.79, 1.45) | 0.66 | 8.2% | 1.01 (0.74, 1.39) | 0.94 | 8.4% | 1.07 (0.84, 1.36) | 0.61 |
| rs7966550 | L953L | C | 11.4% | 12.6% | 0.89 (0.68, 1.16) | 0.40 | 12.5% | 1.03 (0.79, 1.35) | 0.83 | 11.9% | 0.95 (0.77, 1.17) | 0.64 |
| rs7133914 | R1398H | A | 5.7% | 7.4% | 0.78 (0.55, 1.09) | 0.14 | 6.9% | 0.94 (0.68, 1.32) | 0.73 | 6.2% | 0.85 (0.65, 1.10) | 0.22 |
| rs11175964 | K1423K | A | 5.5% | 7.3% | 0.78 (0.55, 1.09) | 0.15 | 6.6% | 0.91 (0.65, 1.27) | 0.58 | 6.0% | 0.83 (0.64, 1.08) | 0.17 |
| rs35507033 | R1514Q | A | 1.2% | 0.8% | 1.72 (0.81, 3.65) | 0.16 | 0.7% | 0.91 (0.34, 2.39) | 0.84 | 1.0% | 1.29 (0.67, 2.50) | 0.45 |
| rs33958906 | P1542S | T | 2.5% | 2.8% | 0.92 (0.56, 1.50) | 0.73 | 3.0% | 1.11 (0.68, 1.81) | 0.67 | 2.8% | 1.05 (0.72, 1.54) | 0.80 |
| rs1427263 | G1624G | C | 35.0% | 35.1% | 1.07 (0.86, 1.34) | 0.54 | 35.6% | 0.96 (0.76, 1.21) | 0.74 | 35.1% | 0.99 (0.83, 1.19) | 0.93 |
| rs11176013 | K1637K | A | 45.3% | 45.1% | 1.07 (0.84, 1.36) | 0.59 | 45.2% | 1.00 (0.78, 1.28) | 0.99 | 45.2% | 1.02 (0.84, 1.24) | 0.82 |
| rs35303786 | M1646T | C | 1.1% | 1.3% | 0.88 (0.42, 1.84) | 0.73 | 2.3% | 1.92 (1.07, 3.45) | 0.030 | 1.6% | 1.32 (0.78, 2.21) | 0.30 |
| rs11564148 | S1647T | A | 31.3% | 30.4% | 1.10 (0.88, 1.36) | 0.42 | 30.1% | 1.08 (0.86, 1.36) | 0.50 | 30.4% | 1.08 (0.90, 1.28) | 0.42 |
| rs10878371 | G1819G | T | 45.4% | 45.1% | 1.07 (0.84, 1.36) | 0.60 | 45.1% | 1.00 (0.77, 1.28) | 0.97 | 45.2% | 1.02 (0.84, 1.24) | 0.84 |
| rs33995883 | N2081D | G | 2.0% | 1.9% | 1.04 (0.59, 1.82) | 0.89 | 2.5% | 1.31 (0.76, 2.28) | 0.33 | 2.3% | 1.17 (0.75, 1.81) | 0.49 |
| rs10878405 | E2108E | A | 31.6% | 31.0% | 1.05 (0.84, 1.31) | 0.66 | 30.9% | 1.03 (0.82, 1.29) | 0.83 | 31.0% | 1.02 (0.86, 1.22) | 0.80 |
| rs33962975 | G2385G | G | 14.8% | 14.1% | 0.97 (0.76, 1.25) | 0.82 | 13.6% | 0.94 (0.72, 1.23) | 0.65 | 14.3% | 0.96 (0.79, 1.18) | 0.70 |
| rs3761863 | M2397T | T | 34.4% | 34.5% | 1.08 (0.86, 1.35) | 0.50 | 35.7% | 1.08 (0.86, 1.37) | 0.51 | 35.0% | 1.07 (0.89, 1.27) | 0.48 |
| rs76904798 | N/A1 | T | 13.7% | 14.0% | 0.91 (0.71, 1.17) | 0.44 | 13.3% | 0.93 (0.71, 1.22) | 0.61 | 13.8% | 0.96 (0.78, 1.17) | 0.66 |
MA=minor allele; MAF=minor allele frequency; OR=odds ratio; CI=confidence interval. ORs, 95% CIs, and p-values result from logistic regression models adjusted for age (age at DLB onset in clinical DLB patients, age at death in pathological high likelihood DLB patients, and age at last follow-up in controls) and gender. Each LRRK2 variant was examined under a dominant model, and therefore ORs correspond to presence of the minor allele. After applying a single-step minP permutation adjustment for multiple testing, p-values ≤ 0.0037 (clinical DLB vs. controls), ≤ 0.0041 (pathological high likelihood DLB vs. controls), and ≤0.0040 (combined disease group vs. controls) were considered as statistically significant.
rs76904798 is not an exonic variant.