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Table 3 Association between seven SNPs in Raptor and Moyamoya disease among the different populations

From: A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians

rs IDa

Allele

Populations

Controls

Cases

ORd (95% CI)

P e

½

11

12

22

Frequencyb

P, HWEc

11

12

22

Frequencyb

P, HWEc

ss161110142

G/A

Japanese

377

6

1

0.01

0.072

46

42

2

0.26

0.056

51.52 (21.92–121.05)

2.08 × 10−29

98.18%

1.56%

0.26%

51.11%

46.67%

2.22%

Korean

218

5

0

0.01

1.000

14

27

0

0.33

0.003

84.09 (28.08–251.76)

9.42 × 10−22

97.76%

2.24%

0.00%

34.15%

65.85%

0.00%

Chinese

100

0

0

0.00

1.000

21

2

0

0.04

1.000

NA

3.37 × 10−2

100.00%

0.00%

0.00%

91.30%

8.70%

0.00%

All Asian

695

11

1

0.01

0.108

81

71

2

0.24

0.002

52.20 (27.18–100.23)

2.48 × 10−49

98.30%

1.56%

0.14%

52.60%

46.10%

1.30%

Caucasian

164

0

0

0.00

1.000

25

0

0

0.00

1.000

NA

NA

100.00%

0.00%

0.00%

100.00%

0.00%

0.00%

rs9911978

A/G

Japanese

149

177

58

0.38

0.707

16

53

21

0.53

0.144

1.81 (1.31–2.51)

3.00 × 10−4

38.80%

46.09%

15.10%

17.78%

58.89%

23.33%

Korean

82

101

40

0.41

0.421

8

21

12

0.55

1.000

1.78 (1.11–2.86)

0.016

36.77%

45.29%

17.94%

19.51%

51.22%

29.27%

Chinese

29

51

20

0.46

0.975

10

13

0

0.28

0.184

0.47 (0.23–0.95)

0.033

29.00%

51.00%

20.00%

43.48%

56.52%

0.00%

All Asian

260

329

118

0.40

0.457

34

87

33

0.50

0.158

1.48 (1.16–1.90)

1.70 × 10−3

36.78%

46.53%

16.69%

22.08%

56.49%

21.43%

Caucasian

88

61

15

0.28

0.437

13

8

4

0.32

0.326

1.23 (0.65–2.33)

0.534

53.66%

37.20%

9.15%

52.00%

32.00%

16.00%

rs12950635

T/C

Japanese

48

164

172

0.66

0.411

5

40

45

0.72

0.484

1.33 (0.93–1.91)

0.118

12.50%

42.71%

44.79%

5.56%

44.44%

50.00%

Korean

25

82

116

0.70

0.105

5

12

24

0.73

0.189

1.15 (0.68–1.95)

0.612

11.21%

36.77%

52.02%

12.20%

29.27%

58.54%

Chinese

6

34

60

0.77

0.844

3

10

10

0.65

1.000

0.56 (0.28–1.12)

0.097

6.00%

34.00%

60.00%

13.04%

43.48%

43.48%

All Asian

79

280

348

0.69

0.059

13

62

79

0.71

0.980

1.12 (0.85–1.47)

0.406

11.17%

39.60%

49.22%

8.44%

40.26%

51.30%

Caucasian

4

62

98

0.79

0.169

1

10

14

0.76

1.000

0.86 (0.43–1.73)

0.671

2.44%

37.80%

59.76%

4.00%

40.00%

56.00%

rs4890047

C/T

Japanese

147

176

61

0.39

0.546

16

52

22

0.53

0.206

1.80 (1.30–2.50)

4.00 × 10−4

38.28%

45.83%

15.89%

17.78%

57.78%

24.44%

Korean

78

104

41

0.42

0.612

8

20

13

0.56

1.000

1.79 (1.11–2.87)

0.016

34.98%

46.64%

18.39%

19.51%

48.78%

31.71%

Chinese

31

49

20

0.45

1.000

8

15

0

0.33

0.063

0.60 (0.31–1.19)

0.141

31.00%

49.00%

20.00%

34.78%

65.22%

0.00%

All Asian

256

329

122

0.41

0.389

32

87

35

0.51

0.156

1.53 (1.19–1.95)

8.00 × 10−4

36.21%

46.53%

17.26%

20.78%

56.49%

22.73%

Caucasian

91

60

13

0.26

0.585

15

8

2

0.24

0.822

0.89 (0.44–1.78)

0.739

55.49%

36.59%

7.93%

60.00%

32.00%

8.00%

rs4889863

A/G

Japanese

149

174

61

0.39

0.440

16

52

22

0.53

0.206

1.82 (1.31–2.53)

3.00 × 10−4

38.80%

45.31%

15.89%

17.78%

57.78%

24.44%

Korean

76

106

41

0.42

0.783

8

20

13

0.56

1.000

1.75 (1.09–2.82)

0.020

34.08%

47.53%

18.39%

19.51%

48.78%

31.71%

Chinese

30

50

20

0.45

1.000

8

15

0

0.33

0.063

0.59 (0.30–1.16)

0.126

30.00%

50.00%

20.00%

34.78%

65.22%

0.00%

All Asian

255

330

122

0.41

0.425

32

87

35

0.51

0.156

1.52 (1.19–1.95)

8.00 × 10−4

36.07%

46.68%

17.26%

20.78%

56.49%

22.73%

Caucasian

91

60

13

0.26

0.585

15

8

2

0.24

0.822

0.89 (0.44–1.78)

0.739

55.49%

36.59%

7.93%

60.00%

32.00%

8.00%

rs11655474

T/C

Japanese

24

148

212

0.74

0.920

2

30

58

0.81

0.691

1.47 (0.98–2.21)

0.062

6.25%

38.54%

55.21%

2.22%

33.33%

64.44%

Korean

16

86

121

0.74

0.993

0

12

29

0.85

0.781

2.10 (1.10–4.01)

0.022

7.17%

38.57%

54.26%

0.00%

29.27%

70.73%

Chinese

8

39

53

0.73

0.971

3

7

13

0.72

0.415

0.96 (0.47–1.96)

0.917

8.00%

39.00%

53.00%

13.04%

30.43%

56.52%

All Asian

48

273

386

0.74

1.000

5

49

100

0.81

0.997

1.49 (1.10–2.03)

0.011

6.79%

38.61%

54.60%

3.25%

31.82%

64.94%

Caucasian

19

61

84

0.70

0.175

2

10

13

0.72

1.000

1.11 (0.57–2.15)

0.754

11.59%

37.20%

51.22%

8.00%

40.00%

52.00%

rs8080957

A/G

Japanese

28

157

199

0.72

0.818

2

31

57

0.81

0.600

1.59 (1.06–2.38)

0.023

7.29%

40.89%

51.82%

2.22%

34.44%

63.33%

Korean

16

98

109

0.71

0.449

0

14

27

0.83

0.525

2.00 (1.09–3.68)

0.024

7.17%

43.95%

48.88%

0.00%

34.15%

65.85%

Chinese

9

45

46

0.69

0.893

4

8

11

0.65

0.434

0.86 (0.44–1.70)

0.667

9.00%

45.00%

46.00%

17.39%

34.78%

47.83%

All Asian

53

300

354

0.71

0.390

6

53

95

0.79

0.916

1.51 (1.12–2.03)

0.007

7.50%

42.43%

50.07%

3.90%

34.42%

61.69%

Caucasian

26

77

61

0.61

0.932

3

12

10

0.64

1.000

1.15 (0.62–2.14)

0.653

15.85%

46.95%

37.20%

12.00%

48.00%

40.00%

  1. NA, Data not available
  2. ars ID, Reference single nucleotide polymorphism (SNP) accession identity number
  3. bFrequency of risk allele 2
  4. cP, Hardy–Weinberg Equilibrium (HWE) two-sided probability value from the test for deviation from the HWE
  5. dOR, Allelic odds ratio with its 95% confidence interval (CI) except for ss161110142, which was calculated under the assumption of dominant effect because of very rare allele frequency
  6. eP Cochran–Armitage trend test’s P value
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Environmental Health and Preventive Medicine

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