Skip to main content

Table 3 Distribution of MTX-related enzyme gene and transporter polymorphisms in healthy Japanese adults and patients with rheumatoid arthritis

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

 

Healthy Japanese adults

Patients with rheumatoid arthritis

p-value**

Genotype

Allele frequency (%)

p-value*

HWE

Genotype

Allele frequency (%)

p-value*

HWE

MTHFR 1298

A/A

A/C

C/C

A

C

  

A/A

A/C

C/C

A

C

   

 Total

206 (68.9)

84 (28.1)

9 (3.0)

83

17

 

0.902

109 (68.6)

42 (26.4)

8 (5.0)

82

18

 

0.149

 

 Men

107 (72.3)

39 (26.3)

2 (1.4)

85

15

 

0.457

33 (82.5)

6 (15.0)

1 (2.5)

90

10

 

0.292

 

 Women

99 (65.6)

45 (29.8)

7 (4.6)

80

20

0.1611

0.522

76 (63.9)

36 (30.2)

7 (5.9)

79

21

0.0736

0.334

0.5478

TYMS 3'-UTR

−6/−6

−6/+6

+6/+6

−6

+6

  

−6/−6

−6/+6

+6/+6

-6

+6

   

 Total

127 (42.5)

137 (45.8)

35 (11.7)

65

35

 

0.833

72 (45.3)

67 (42.1)

20 (12.6)

66

34

 

0.478

 

 Men

64 (43.2)

66 (44.6)

18 (12.2)

66

34

 

0.877

20 (50.0)

10 (25.0)

10 (25.0)

62

38

 

0.003

 

 Women

63 (41.7)

71 (47.0)

17 (11.3)

65

35

0.9099

0.653

52 (43.7)

57 (47.9)

10 (8.4)

68

32

0.0064

0.304

0.7516

RFC1 80

G/G

G/A

A/A

G

A

  

G/G

G/A

A/A

G

A

   

 Total

52 (17.4)

155 (51.8)

92 (30.8)

43

57

 

0.336

34 (21.4)

74 (46.5)

51 (32.1)

45

55

 

0.461

 

 Men

17 (11.5)

80 (54.0)

51 (34.5)

39

61

 

0.086

9 (22.5)

18 (45.0)

13 (32.5)

45

55

 

0.565

 

 Women

35 (23.2)

75 (49.7)

41 (27.1)

48

52

0.0226

0.951

25 (21.0)

56 (47.1)

38 (31.9)

45

55

0.9698

0.605

0.47

RFC1−43

T/T

T/C

C/C

T

C

  

T/T

T/C

C/C

T

C

   

 Total

52 (17.4)

155 (51.8)

92 (30.8)

43

57

 

0.336

34 (21.4)

74 (46.5)

51 (32.1)

45

55

 

0.461

 

 Men

17 (11.5)

80 (54.0)

51 (34.5)

39

61

 

0.086

9 (22.5)

18 (45.0)

13 (32.5)

45

55

 

0.565

 

 Women

35 (23.2)

75 (49.7)

41 (27.1)

48

52

0.0226

0.951

25 (21.0)

56 (47.1)

38 (31.9)

45

55

0.9698

0.605

0.47

FPGS 1994

G/G

G/A

A/A

G

A

  

G/G

G/A

A/A

G

A

   

 Total

140 (46.8)

128 (42.8)

31 (10.4)

68

32

 

0.828

70 (44.0)

73 (45.9)

16 (10.1)

67

33

 

0.632

 

 Men

76 (51.3)

62 (41.9)

10 (6.8)

72

28

 

0.577

13 (32.5)

22 (55.0)

5 (12.5)

60

40

 

0.356

 

 Women

64 (42.4)

66 (43.7)

21 (13.9)

64

36

0.0775

0.550

57 (47.9)

51 (42.9)

11 (9.2)

69

31

0.2291

0.933

0.8131

GGH 452

C/C

C/T

T/T

C

T

  

C/C

C/T

T/T

C

T

   

 Total

249 (83.3)

47 (15.7)

3 (1.0)

91

9

 

0.641

134 (84.3)

22 (13.8)

3 (1.9)

91

9

 

0.081

 

 Men

124 (83.8)

21 (14.2)

3 (2.0)

91

9

 

0.079

34 (85.0)

5 (12.5)

1 (2.5)

91

9

 

0.169

 

 Women

125 (82.8)

26 (17.2)

0 (0.0)

91

9

0.097

0.247

100 (84.0)

17 (14.3)

2 (1.7)

91

9

0.9167

0.221

0.6543

GGH−401

C/C

C/T

T/T

C

T

  

C/C

C/T

T/T

C

T

   

 Total

175 (58.5)

110 (36.8)

14 (4.7)

77

23

 

0.531

88 (55.3)

62 (39.0)

9 (5.7)

75

25

 

0.654

 

 Men

91 (61.5)

49 (33.1)

8 (5.4)

78

22

 

0.679

19 (47.5)

19 (47.5)

2 (5.0)

71

29

 

0.313

 

 Women

84 (55.6)

61 (40.4)

6 (4.0)

76

24

0.3969

0.210

69 (58.0)

43 (36.1)

7 (5.9)

76

24

0.4479

0.930

0.7742

ABCB1 3435

C/C

C/T

T/T

C

T

  

C/C

C/T

T/T

C

T

   

 Total

94 (31.4)

156 (52.2)

49 (16.4)

58

42

 

0.242

54 (34.0)

82 (51.6)

23 (14.4)

60

40

 

0.363

 

 Men

45 (30.4)

80 (54.1)

23 (15.5)

57

43

 

0.199

16 (40.0)

19 (47.5)

5 (12.5)

64

36

 

0.861

 

 Women

49 (32.5)

76 (50.3)

26 (17.2)

58

42

0.7955

0.708

38 (31.9)

63 (52.9)

18 (15.1)

58

42

0.6454

0.328

0.7955

ABCC2　IVS23 + 56

T/T

T/C

C/C

T

C

  

T/T

T/C

C/C

T

C

   

 Total

25 (8.4)

103 (34.4)

171 (57.2)

26

74

 

0.099

6 (3.8)

55 (34.6)

98 (61.6)

21

79

 

0.614

 

 Men

4 (2.7)

51 (34.5)

93 (62.8)

20

80

 

0.333

1 (2.5)

17 (42.5)

22 (55.0)

24

76

 

0.273

 

 Women

21 (13.9)

52 (34.4)

78 (51.7)

31

69

0.0009

0.016

5 (4.2)

38 (31.9)

76 (63.9)

20

80

0.4574

0.928

0.1422

ABCG2 914

C/C

C/A

A/A

C

A

  

C/C

C/A

A/A

C

A

   

 Total

166 (55.5)

111 (37.1)

22 (7.4)

74

26

 

0.565

77 (48.4)

67 (42.2)

15 (9.4)

69

31

 

0.939

 

 Men

78 (52.7)

57 (38.5)

13 (8.8)

72

28

 

0.579

19 (47.5)

16 (40.0)

5 (12.5)

68

32

 

0.576

 

 Women

88 (58.3)

54 (35.7)

9 (6.0)

76

24

0.5003

0.852

58 (48.7)

51 (42.9)

10 (8.4)

70

30

0.7525

0.796

0.3325

  1. Values are given as n (%)
  2. HWE: p-value for chi-square test for agreement with Hardy-Weinberg equilibrium. MTHFR: methylenetetrahydrofolate reductase, DHFR: dihydrofolate 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
  3. * p-value: comparison of men and women
  4. ** p-value: comparison of healthy adults and RA patients
Back to article page

Journal of Pharmaceutical Health Care and Sciences

ISSN: 2055-0294

Contact us