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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