Table 3.
Comparision of RNF213 p.R4810K distribution in MMD, non-MMD ICASO and normal individuals in Japan, Korea and China
| Diseases | Countries | Cases | Normal individuals | OR (95%CI)a | Reference | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N | GG | GA | AA | Carrier rate (%) | MAF% | N | GG | GA | AA | Carrier rate (%) | MAF% | ||||
| MMD | Japan | 105 | 17 | 84 | 4 | 83.81 | 43.81 | 457 | 438 | 19 | 0 | 4.16 | 2.08 | 119.3 (59.7–238.7) | [2] |
| 161 | 16 | 135 | 10 | 90.06 | 48.14 | 384 | 374 | 9 | 1 | 2.60 | 1.43 | 338.9 (150.3–764.2) | [1] | ||
| 204 | 36 | 153 | 15 | 82.35 | 44.85 | 283 | 278 | 5 | 0 | 1.77 | 0.88 | 259.5 (99.9–674.1) | [10] | ||
| 48 | 7 | 40 | 1 | 85.42 | 43.75 | 25 | 25 | 0 | 0 | 0.00 | 0.00 | - | [4] | ||
| 30 | 10 | 19 | 1 | 66.67 | 35.00 | 110 | 108 | 2 | 0 | 1.82 | 0.91 | 108.0 (22.0–530.3) | [6] | ||
| 103 | 27 | 71 | 5 | 73.79 | 39.32 | 95 | 93 | 2 | 0 | 2.11 | 1.05 | 130.9 (30.2–568.1) | [8] | ||
| 78 | 12 | 64 | 2 | 84.62 | 43.59 | - | - | - | - | - | - | - | [11] | ||
| - | - | - | - | - | - | 1474 | 1437 | 34 | 3 | 2.51 | 1.36 | - | [5] | ||
| - | - | - | - | - | - | 4308 | 4248 | 57 | 3 | 1.39 | 0.73 | - | [14] | ||
| - | - | - | - | - | - | 519 | 510 | 9 | 0 | 1.73 | 0.87 | - | [15] | ||
| Korea | 38 | 8 | 30 | 0 | 78.95 | 39.47 | 223 | 217 | 6 | 0 | 2.69 | 1.35 | 135.6 (44.0–417.8) | [1] | |
| 131 | 32 | 99 | 0 | 75.57 | 37.79 | 51 | 51 | 0 | 0 | 0.00 | 0.00 | - | [9] | ||
| 165 | 40 | 112 | 13 | 75.76 | 41.82 | 294 | 286 | 8 | 0 | 2.72 | 1.36 | 111.7 (50.8–245.6) | [12] | ||
| 288 | 89 | 199 | 0 | 69.10 | 34.55 | 83 | 82 | 1 | 0 | 1.20 | 0.60 | 183.3 (25.1–1338.1) | [13] | ||
| - | - | - | - | - | - | 1516 | 1479 | 37 | 0 | 2.44 | 1.22 | - | [16] | ||
| China | 52 | 40 | 11 | 1 | 23.08 | 12.50 | 100 | 98 | 2 | 0 | 2.00 | 1.00 | 14.7 (3.1–68.7) | [1] | |
| 170 | 148 | 21 | 1 | 12.94 | 6.76 | 507 | 505 | 2 | 0 | 0.39 | 0.20 | 37.5 (8.7–161.5) | [3] | ||
| 96 | 87 | 8 | 1 | 9.38 | 5.21 | 96 | 95 | 1 | 0 | 1.04 | 0.52 | 9.8 (1.2–79.2) | [14] | ||
| 81 | 69 | 10 | 2 | 14.81 | 8.64 | 100 | 98 | 2 | 0 | 2.00 | 1.00 | 8.5 (1.8–39.3) | [16] | ||
| 255 | 175 | 78 | 2 | 31.37 | 16.08 | 300 | 300 | 0 | 0 | 0.00 | 0.00 | - | [15] | ||
| - | - | - | - | - | - | 587 | 582 | 5 | 0 | 0.85 | 0.43 | - | [5] | ||
| Non-MMD ICASO | Japan | 41 | 32 | 8 | 1 | 21.95 | 12.20 | 25 | 25 | 0 | 0 | 0.00 | 0.00 | - | [4] |
| 84 | 64 | 20 | 0 | 23.81 | 11.90 | 110 | 108 | 2 | 0 | 1.82 | 0.91 | 16.8 (3.8–74.6) | [6] | ||
| Korea | 221 | 144 | 77 | 0 | 34.84 | 17.42 | 51 | 51 | 0 | 0 | 0.00 | 0.00 | - | [9] | |
| 234 | 184 | 50 | 0 | 21.37 | 10.68 | 83 | 82 | 1 | 0 | 1.20 | 0.60 | 22.3 (3.0–164.1) | [13] | ||
| China | 715 | 709 | 6 | 0 | 0.84 | 0.42 | 507 | 505 | 2 | 0 | 0.39 | 0.20 | 2.14 (0.42–10.63) | This study | |
MMD moyamoya disease, Non-MMD ICASO non-moyamoya intracranial artey stenosis/occlusion disease, N sample size, MAF minor allele frequency
aOdds ratio (95% confidence interval) under dominant model.- can’t calculate