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Table 3 Comparision of RNF213 p.R4810K distribution in MMD, non-MMD ICASO and normal individuals in Japan, Korea and China

From: Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population

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
  1. MMD moyamoya disease, Non-MMD ICASO non-moyamoya intracranial artey stenosis/occlusion disease, N sample size, MAF minor allele frequency
  2. aOdds ratio (95% confidence interval) under dominant model.- can’t calculate