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Table 1 Comparison of distribution of MTX-related enzyme gene and transporter polymorphisms among ethnic or population group in healthy adults

From: Genetic polymorphisms of enzyme proteins and transporters related to methotrexate response and pharmacokinetics in a Japanese population

Ethnic/population group

n

Genotype frequency (n)

HWE

Allele frequency (%)

p-value

Reference No.

MTHFR 1298

 

A/A

A/C

C/C

 

A

C

  

 Japanese (Our study)

299

206 (68.9)

84 (28.1)

9 (3.0)

0.902

83

17

  

 Japanese

477

316 (66.3)

146 (30.6)

15 (3.1)

0.707

82

18

0.7430

[4–6]

 Asian

176

114 (64.8)

54 (30.7)

8 (4.5)

0.623

80

20

0.5310

[4]

 Caucasian

1315

636 (48.3)

548 (41.7)

131 (10.0)

0.418

69

31

< 0.0001

[4, 7, 8]

 African

346

270 (78.0)

74 (21.4)

2 (0.6)

0.198

89

11

0.0060

[4]

TYMS 3'-UTR

 

−6/−6

−6/+6

+6/+6

 

−6

+6

  

 Japanese (Our study)

299

127 (42.5)

137 (45.8)

35 (11.7)

0.833

65

35

  

 Japanese

239

106 (44.4)

114 (47.7)

19 (7.9)

0.123

68

32

0.3540

[6, 9]

RFC1 80

 

G/G

G/A

A/A

 

G

A

  

 Japanese (Our study)

299

52 (17.4)

155 (51.8)

92 (30.8)

0.336

43

57

  

 Japanese

472

90 (19.1)

228 (48.3)

154 (32.6)

0.731

43

57

0.6260

[4, 10]

 Asian

168

46 (27.4)

76 (45.2)

46 (27.4)

0.217

50

50

0.0390

[4]

 Caucasian

1203

363 (30.2)

585 (48.6)

255 (21.2)

0.498

55

45

< 0.0001

[4, 7, 8, 11]

 African

249

33 (13.3)

92 (36.9)

124 (49.8)

0.020

32

68

< 0.0001

[4, 11]

RFC1−43

 

T/T

T/C

C/C

 

T

C

  

 Japanese (Our study)

299

52 (17.4)

155 (51.8)

92 (30.8)

0.336

43

57

  

 Japanese

172

34 (19.8)

84 (48.8)

54 (31.4)

0.897

44

56

0.7623

[4]

 Asian

164

44 (26.8)

78 (47.6)

42 (25.6)

0.533

51

49

0.0520

[4]

 Caucasian

226

64 (28.3)

128 (56.6)

34 (15.1)

0.021

57

43

< 0.0001

[4]

 African

220

20 (9.1)

82 (37.3)

118 (53.7)

0.299

28

72

< 0.0001

[4]

FPGS 1994

 

G/G

G/A

A/A

 

G

A

  

 Japanese (Our study)

299

140 (46.8)

128 (42.8)

31 (10.4)

0.828

68

32

  

 Japanese

170

74 (43.5)

74 (43.5)

22 (13.0)

0.606

65

35

0.6390

[4]

 Asian

630

315 (50.0)

251 (39.8)

64 (10.2)

0.185

70

30

0.6490

[4, 12]

 Caucasian

226

30 (13.3)

104 (46.0)

92 (40.7)

0.943

36

64

< 0.0001

[4]

 African

226

34 (15.0)

118 (52.2)

74 (32.8)

0.241

41

59

< 0.0001

[4]

GGH 452

 

C/C

C/T

T/T

 

C

T

  

 Japanese (Our study)

299

249 (83.3)

47 (15.7)

3 (1.0)

0.641

91

9

  

 Japanese

525

426 (81.1)

96 (18.3)

3 (0.6)

0.331

90

10

0.5180

[4, 13]

 Asian

564

453 (80.3)

104 (18.5)

7 (1.2)

0.710

90

10

0.5680

[4, 12]

 Caucasian

209

155 (74.2)

49 (23.4)

5 (2.4)

0.633

86

14

0.0350

[4, 7]

 African

332

284 (85.5)

44 (13.3)

4 (1.2)

0.135

92

8

0.6650

[4]

GGH−401

 

C/C

C/T

T/T

 

C

T

  

 Japanese (Our study)

299

175 (58.5)

110 (36.8)

14 (4.7)

0.531

77

23

  

 Japanese

86

34 (39.5)

42 (48.8)

10 (11.7)

0.583

64

36

0.0031

[4]

 Asian

90

54 (60.0)

32 (35.6)

4 (4.4)

0.786

78

22

0.9690

[4]

 Caucasian

120

54 (45.0)

58 (48.3)

8 (6.7)

0.145

69

31

0.0421

[4]

 African

120

90 (75.0)

26 (21.7)

4 (3.3)

0.232

86

14

0.0053

[4]

ABCB1 3435

 

C/C

C/T

T/T

 

C

T

  

 Japanese (Our study)

299

94 (31.4)

156 (52.2)

49 (16.4)

0.242

58

42

  

 Japanese

716

239 (33.4)

357 (49.9)

120 (16.7)

0.494

58

42

0.7850

[4, 9, 14–18]

 Asian

84

32 (38.1)

34 (40.5)

18 (21.4)

0.125

58

42

0.1606

[4]

 Caucasian

226

34 (15.0)

126 (55.8)

66 (29.2)

0.038

43

57

< 0.0001

[4]

 African

226

178 (78.8)

46 (20.4)

2 (0.8)

0.605

89

11

< 0.0001

[4]

ABCC2 IVS23 + 56

 

T/T

T/C

C/C

 

T

C

  

 Japanese (Our study)

299

25 (8.4)

103 (34.4)

171 (57.2)

0.099

26

74

  

 Japanese

172

6 (3.5)

64 (37.2)

102 (59.3)

0.289

22

78

0.0971

[4]

 Asian

86

4 (4.7)

44 (51.1)

38 (44.2)

0.048

30

70

0.0174

[4]

 Caucasian

226

28 (12.4)

104 (46.0)

94 (41.6)

0.926

35

65

0.0018

[4]

 African

226

4 (1.8)

88 (38.9)

134 (59.3)

0.014

21

79

0.0020

[4]

ABCG2 914

 

C/C

C/A

A/A

 

C

A

  

 Japanese (Our study)

299

166 (55.5)

111 (37.1)

22 (7.4)

0.565

74

26

  

 Japanese

4240

1999 (47.1)

1827 (43.1)

414 (9.8)

0.908

69

31

0.0170

[4, 14, 19]

 Asian

176

90 (51.1)

70 (39.8)

16 (9.1)

0.655

71

29

0.6020

[4]

 Caucasian

346

272 (78.6)

70 (20.2)

4 (1.2)

0.831

89

11

< 0.0001

[4]

 African

344

342 (99.4)

2 (0.6)

0 (0)

0.957

100

0

< 0.0001

[4]

  1. Values are given as n (%). HWE: p-value for chi-square test for agreement with Hardy-Weinberg equilibrium. p-value; comparison our study (Japanese) with each ethnic/population group
  2. MTHFR: methylenetetrahydrofolate reductase, TYMS: thymidylate synthase, RFC1: reduced folate carrier 1, FPGS: folypolyglutamayl synthase, GGH: γ-glutamyl hydrolase, ABCB1: ATP binding cassette subfamily B member 1, ABCC2: ATP binding cassette subfamily C member 2, ABCG2: ATP binding cassette subfamily G member 2