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Table 5 Combined genotype frequencies of MTHFR C677T, A1298C and SLC19A1 G80A among controls and CTD cases

From: Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population

Genotype

Controls (n = 234)

CTD (N = 193)

p-Value

No. (%)

No. (%)

OR (95% CI)

MTHFR C677T and A1298C combinations

 677CC, 1298AA

32(13.68)

23(11.92)

1.00

 

 677CC, 1298 AC + CC

51(21.79)

42(21.76)

1.15(0.60–2.23)

0.6921

 1298AA, 677CT + TT

78(33.33)

34(17.62)

0.61(0.32–1.17)

0.1421

 Either one variant genotype

129(55.13)

76(39.38)

0.82(0.44–1.49)

0.5199

 Both variant genotypes

73(31.20)

94(48.70)

1.79(0.95–3.33)

0.0623

MTHFR C677T and SLC19A1 G80A combinations

 677CC, 80GG

35(14.96)

21(10.88)

1.00

 

 677CC, 80AG + AA

48(20.51)

44(22.80)

1.53(0.76–3.03)

0.2196

 80GG, 677CT + TT

67(28.63)

47(24.35)

1.17(0.60–2.23)

0.6410

 Either one variant genotype

115(49.15)

91(47.15)

1.32(0.72–2.44)

0.3706

 Both variant genotypes

84(35.90)

81(41.97)

1.61(0.85–3.05)

0.1327

MTHFR A1298C and SLC19A1 G80A combinations

 1298AA, 80GG

46(19.66)

18(9.33)

1.00

 

 1298AA, 80AG + AA

64(27.35)

39(20.21)

1.56(0.79–3.14)

0.1969

 80GG, 1298 AC + CC

56(23.93)

50(25.91)

2.28(1.18–4.53)

0.0141*

 Either one variant genotype

120(51.28)

89(46.11)

1.90(1.05–3.40)

0.0382*

 Both variant genotypes

68(29.06)

86(44.56)

3.23(1.71–6.02)

0.0002*

MTHFR C677T, A1298C and SLC19A1 G80A combinations

 677CC, 1298AA, 80GG

12(5.13)

10(5.18)

1.00

 

 677CC, 1298AA, 80AG + AA

20(8.55)

11(5.70)

0.66(0.20–2.09)

0.4646

 677CC, 80GG, 1298 AC + CC

23(9.83)

11(5.70)

0.57(0.18–1.77)

0.3226

 1298AA, 80GG, 677CT + TT

34(14.53)

10(5.18)

0.35(0.11–1.06)

0.0582

 Either one variant genotype

77(32.91)

32(16.58)

0.50(0.20–1.34)

0.1400

 677CC, 1298 AC + CC, 80AG + AA

28(11.97)

31(16.06)

1.33(0.48–3.32)

0.5704

 677CT + TT, 1298AA, 80AG + AA

44(18.80)

26(13.47)

0.71(0.26–1.78)

0.4859

 677CT + TT, 1298 AC + CC, 80GG

33(14.10)

39(20.21)

1.42(0.54–3.52)

0.4740

 Either two variant genotypes

105(44.87)

96(49.74)

1.10(0.48–2.67)

0.8370

 All variant genotypes

40(17.09)

55(28.50)

1.65(0.66–4.40)

0.2900

  1. OR odds ratio, CI confidence interval
  2. *means p-value< 0.05