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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]