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Table 1 Detailed characteristics of all eligible studies for the association with RNF213 rare variants and MMD or ICASO

From: Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review

Diseases Rare variants Author and reference Year Country Sample size Mean age (years) Family history of MMD (%) Genotypea Carrier rate (%) OR(95% CI)b NOS HWE
Case Control Case Control Case Control Case Control Case Control
MMD p.R4810K (rs112735431) G>A Kamada et al. [11] 2011 Japan 105 457 17/84/4 438/19/0 83.81 4.16 119.33 (59.66–238.7) 8 0.65
Liu et al. [12] 2011 Japan 161 384 29.9 ± 21.4 61.8 ± 10.2 16/135/10 374/9/1 90.06 2.60 338.94 (150.32–764.20) 7 0.01
Liu et al. [12] 2011 Korea 38 223 38.7 ± 14.1 40.7 ± 10.9 8/30/0 217/6/0 78.95 2.69 135.63 (44.02–417.86) 8 0.84
Liu et al. [12] 2011 China 52 150 22.7 ± 17.9 39.4 ± 10.9 40/11/1 148/2/0 23.08 1.33 22.20 (4.77–103.26) 7 0.93
Miyatake et al. [35] 2012 Japan 204 283 22.7 ± 17.9   20.1 36/153/15 278/5/0 82.35 1.77 259.47 (99.86–674.15) 7 0.88
Miyawaki et al. [21] 2012 Japan 48 25 48.4 ± 18.7 49.8 ± 16.1 7/40/1 25/0/0 85.42 0.00 282.20 (15.45–5153.83)c 7
Wu et al. [13] 2012 China 170 507 35.8 ± 13.2 37.2 ± 16.9 2.9 0 148/21/1 505/2/0 12.94 0.39 37.53 (8.72–161.47) 9 0.96
Wang et al. [27] 2013 China 96 96 43.0 ± 13.7 42.6 ± 9.4 87/8/1 95/1/0 9.38 1.04 9.83 (1.22–79.17) 9 0.96
Miyawaki et al. [22] 2013 Japan 30 110 46.7 ± 18.4 39.1 ± 14.1 10/19/1 108/2/0 66.67 1.8182 108.00 (21.99–530.34) 7 0.92
Bang et al. [23] 2015 Korea 131 51 51.3 ± 13.7d 32/98/1 51/0/0 75.57 0.00 315.34 (18.92–5254.74)c 7
Lee et al. [15] 2015 China 36 500 22.2 30/6/0 498/2/0 16.67 0.40 49.80 (9.64–257.29) 7 0.96
Moteki et al. [16] 2015 Japan 103 95 27[9–42]e 26.2 27/71/5 93/2/0 73.79 2.11 130.89 (44.02–417.86) 7 0.92
Huang et al. [36] 2015 China 52 80 41.6 ± 11.2 40 ± 10.4 45/6/1 79/1/0 13.46 1.25 12.29 (1.46–103.10) 8 0.96
Kim et al. [37] 2016 Korea 165 294 21.3 ± 13.6 40.9 ± 10.9 27.9 40/112/13 286/8/0 75.76 2.72 111.72 (50.82–245.58) 7 0.81
Shoemaker et al. [17] 2016 Japan 5 5 2/3/0 5/0/0 60.00 0.00 18.20 (0.67–494.80)c 7
Shoemaker et al. [17] 2016 Korea 11 11 3/8/0 11/0/0 72.73 0.00 55.86 (2.53–1231.23)c 7
Shoemaker et al. [17] 2016 China 6 6 5/0/1 6/0/0 16.67 0.00 3.55 (0.12–105.82)c 7
Huang et al. [18] 2016 China 81 100 42.7 ± 12.2 40.2 ± 11.9 69/10/2 98/2/0 14.81 2.00 8.52 (1.85–39.29) 8 0.92
Bang et al. [24] 2016 Korea 288 83 45.9 ± 12.7 56.0 ± 12.2 10.1 89/199/0 82/1/0 69.10 1.20 183.35 (25.12–1338.15) 7 0.96
Zhang et al. [19] 2016 China 255 300 26.7 ± 14.7 28.0 ± 15.9 13.7 175/78/2 300/0/0 31.37 0.00 275.67 (16.99–4473.13)c 9
Park et al. [38] 2017 Korea 25 100 49 ± 7.1 7/18/0 98/2/0 72.00 2.00 126.00 (24.20–656.00) 9 0.92
Jang et al. [39] 2017 Korea 264 1516 44.4     86/177/1 1479/37/0 67.42 2.44 87.38 (57.75–132.22) 7 0.63
Shinya et al. [40] 2017 Japan 5 100 46.4 ± 19.3 68.8 ± 15.8 1/4/0 98/2/0 80.00 2.00 196.00 (14.55–2639.78) 9 0.92
p.R2092C (rs139265462) C>T Shoemaker et al. [17] 2015 European 74 74 73/1/0 74/0/0 1.35 0.00 3.04 (0.12–75.86)c 7
Shoemaker et al. [17] 2015 Hispanic 6 6 5/1/0 6/0/0 16.67 0.00 3.55 (0.12–105.82)c 7
p.D4013N (rs397514563) G>A Liu et al. [12] 2011 Czech 8 120 7/1/0 120/0/0 12.50 0.00 48.20 (1.81–1286.73)c 7
Cecchi et al. [14] 2014 European 22 12 19/3/0 12/0/0 13.64 0.00 4.49 (0.21–94.47)c 6
Zhang et al. [19] 2016 China 255 300 26.7 ± 14.7 28.0 ± 15.9 13.7 254/1/0 300/0/0 0.39 0.00 3.54 (0.14–87.33)c 9
p.R4062Q G>A Liu et al. [12] 2011 German 42 164 41/1/0 164/0/0 2.38 0.00 11.89 (0.48–297.23)c 7
Moteki et al. [16] 2015 Japan 370 279 369/1/0 279/0/0 0.27 0.00 2.27 (0.09–55.92)c 7
Zhang et al. [19] 2016 China 255 300 26.7 ± 14.7 28.0 ± 15.9 13.7 254/1/0 300/0/0 0.39 0.00 3.54 (0.14–87.33)c 9
p.A4399T (rs148731719) G>A Kamada et al. [11] 2011 Japan 63 53 59/4/0 51/2/0 6.35 3.77 1.73 (0.30–9.83) 8 0.89
Miyatake et al. [35] 2012 Japan 204 188 22.7 ± 17.9 20.1 191/12/1 172/16/0 6.37 8.51 0.73 (0.34–1.56) 7 0.54
Wu et al. [13] 2012 China 170 507 48.4 ± 18.7 49.8 ± 16.1 142/27/1 462/45/0 16.47 8.88 2.60 (1.53–4.43) 9 0.3
Wang et al. [27] 2013 China 96 96 43.0 ± 13.7 42.6 ± 9.4 96/0/0 85/11/0 0.00 11.46 0.04 (0.00–0.66)c 9 0.55
Huang et al. [36] 2015 China 52 80 41.6 ± 11.2 40 ± 10.4 49/3/0 80/0/0 5.77 0.00 11.38 (0.58–225.08)c 8
p.E4950D (rs371441113) G>C Liu et al. [12] 2011 China 52 150 22.7 ± 17.9 39.4 ± 10.9 50/2/0 150/0/0 3.85 0.00 14.90 (0.70–315.60)c 7
Wu et al. [13] 2012 China 170 507 48.4 ± 18.7 49.8 ± 16.1 169/1/0 507/0/0 0.59 0.00 8.98 (0.36–221.54)c 9
Zhang et al. [19] 2016 China 255 300 26.7 ± 14.7 28.0 ± 15.9 13.7 253/2/0 300/0/0 0.78 0.00 5.93 (0.28–124.02)c 9
p.A5021V (rs138130613) C>T Liu et al. [12] 2011 China 52 150 22.7 ± 17.9 39.4 ± 10.9 50/2/0 150/0/0 3.85 0.00 14.90 (0.70–315.60)c 7
Wu et al. [13] 2012 China 170 507 48.4 ± 18.7 49.8 ± 16.1 169/1/0 507/0/0 0.59 0.00 8.98 (0.36–221.54)c 9
Wang et al. [27] 2013 China 50 90 47/3/0 89/1/0 6.00 1.11 2.39 (0.39–14.80) 9 0.91
Huang et al. [36] 2015 China 52 80 41.6 ± 11.2 40 ± 10.4 49/3/0 78/2/0 5.77 2.50 5.68 (1.57–15.98) 8 0.96
ICASO p.R4810K (rs112735431) G>A Miyawaki et al. [21] 2012 Japan 41 25 62.3 ± 11.3 49.8 ± 16.1 32/8/1 25/0/0 21.95 0.00 14.91 (0.83–268.43)c 7
Miyawaki et al. [22] 2013 Japan 84 110 61.5 ± 12.6 39.1 ± 14.1 64/20/0 108/2/0 23.81 1.82 16.88 (3.82–74.58) 7 0.92
Bang et al. [23] 2015 Korea 221 51 144/77/0 51/0/0 34.84 0.00 55.24 (3.36–907.41)c 7
Huang et al. [36] 2015 China 64 80 42.5 ± 12.2 40 ± 10.4 58/5/1 79/1/0 9.38 1.25 8.17 (0.96–69.74) 8 0.96
Shang et al. [41] 2015 China 139 300 138/1/0 299/1/0 0.72 0.33 2.17 (0.43–10.63) 8 0.98
Bang et al. [24] 2016 Korea 234 83 56.0 ± 12.2 184/50/0 82/1/0 21.37 1.20 22.28 (3.03–164.07) 7 0.96
Kim et al. [25] 2016 Korea 31 1516f 17/140 1479/37/0 45.16 2.44 32.92 (15.11–71.74) 7 0.63
Park et al. [38] 2017 Korea 31 100 49 ± 14.1 24/7/0 98/2/0 22.58 2.00 14.58 (2.85–74.69) 9 0.92
Zhang et al. [42] 2017 China 715 507 709/6/0 505/2/0 0.84 0.39 2.14 (0.43–10.63) 7 0.96
Xue et al. [43] 2017 China 114 268      106/8/0 267/1/0 7.54 0.37 20.15 (2.49–163.08) 9 0.98
Shinya et al. [40] 2017 Japan 104 100 68.80 ± 15.8 94/10/0 98/2/0 9.62 2.00 5.21 (1.11–24.42) 9 0.92
  1. MMD moyamoya disease, ICASO non-moyamoya intracranial artery stenosis/occlusion disease, − not available
  2. aGenotype presented as wild type/heterozygous/homozygous
  3. bOR(95% CI) was calculated in the dominant model
  4. cWe applied a half-integer continuity correction to all four cells if the event rates were zero
  5. dMean age of 352 intracranial stenosis patients(including MMD and ICASO) in this study. eMedian age at onset and interquartile range fFor this case-only study, we use 1516 general Korean individuals reported by Jang M.A et al. as control [39]