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Table 4 Genotype frequencies among controls, TOF, PA/VSD, DORV, TGA, PTA and IAA cases

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

Genotype Controls (n = 234) TOF (n = 90) p-Value PA/VSD (n = 31) p-Value DORV (n = 35) p-Value TGA (n = 10) p-Value PTA (n = 14) p-Value IAA (n = 13) p-Value
No. (%) No. (%) OR (95% CI) No. (%) OR (95% CI) No. (%) OR (95% CI) No. (%) OR (95% CI) No. (%) OR (95% CI) No. (%) OR (95% CI)
MTHFR C677T
 CC 83(35.47) 31(34.44) 1.00   13(41.94) 1.00   9(25.71) 1.00   2(20.00) 1.00   6(42.86) 1.00   4(30.77) 1.00  
 CT 120(51.28) 32(35.56) 0.71(0.41–1.24) 0.2347 11(35.48) 0.59(0.26–1.39) 0.2130 13(37.14) 0.99(0.40–2.39) 0.9984 5(50.00) 1.73(0.36–8.84) 0.5140 4(28.57) 0.46(0.14–1.80) 0.2315 3(23.08) 0.52(0.13–1.98) 0.3906
 TT 31(13.25) 27(30.00) 2.33(1.18–4.39) 0.0111* 7(22.58) 1.44(0.56–3.90) 0.4749 13(37.14) 3.87(1.55–9.32) 0.0034* 3(30.00) 4.02(0.78–23.14) 0.1120 4(28.57) 1.79(0.54–6.38) 0.3883 6(46.15) 4.02(1.09–13.12) 0.0297*
 CT + TT 151(64.53) 59(65.56) 1.05(0.64–1.72) 0.8625 18(58.06) 0.76(0.36–1.59) 0.4816 26(74.29) 1.59(0.70–3.60) 0.2565 8(80.00) 2.20(0.52–10.46) 0.3147 8(57.14) 0.73(0.24–2.21) 0.5757 9(69.23) 1.24(0.38–3.72) 0.7298
MTHFR A1298C
 AA 110(47.01) 27(30.00) 1.00   11(35.48) 1.00   10(28.57) 1.00   4(40.00) 1.00   3(21.43) 1.00   2(15.38) 1.00  
 AC 67(28.63) 33(36.67) 2.01(1.11–3.70) 0.0201* 13(41.94) 1.94(0.80–4.39) 0.1255 12(34.29) 1.97(0.85–4.87) 0.1313 2(20.00) 0.82(0.15–3.61) 0.8222 7(50.00) 3.83(1.00–13.90) 0.0431* 4(30.77) 3.28(0.74–17.52) 0.1543
 CC 57(24.36) 30(33.33) 2.14(1.14–3.88) 0.0133* 7(22.58) 1.23(0.47–3.39) 0.6869 13(37.14) 2.51(1.00–6.13) 0.0369* 4(40.00) 1.93(0.54–6.80) 0.3575 4(28.57) 2.57(0.67–10.43) 0.2113 7(53.85) 6.75(1.41–32.67) 0.008*
 AC + CC 124(52.99) 63(70.00) 2.07(1.22–3.50) 0.0055* 20(64.52) 1.61(0.76–3.63) 0.2261 25(71.43) 2.22(1.02–4.61) 0.0407* 6(60.00) 1.33(0.35–4.26) 0.6635 11(78.57) 3.25(0.97–11.09) 0.0619 11(84.62) 4.88(1.15–22.36) 0.0258*
SLC19A1 G80A
 GG 102(43.59) 29(32.22) 1.00   13(41.94) 1.00   15(42.86) 1.00   3(30.00) 1.00   3(21.43) 1.00   5(38.46) 1.00  
 AG 82(35.04) 35(38.89) 1.62(0.93–2.87) 0.0987 12(38.71) 1.24(0.51–2.90) 0.6163 10(28.57) 0.89(0.38–2.06) 0.7983 1(10.00) 0.45(0.03–3.06) 0.4786 5(35.71) 2.24(0.57–8.62) 0.2691 6(46.15) 1.61(0.45–4.84) 0.4416
 AA 50(21.37) 26(28.89) 1.63(0.88–2.99) 0.1205 6(19.35) 0.84(0.31–2.26) 0.7387 10(28.57) 1.21(0.51–2.85) 0.6593 6(60.00) 3.64(0.96–13.59) 0.0593 6(42.86) 3.64(0.96–13.59) 0.0593 2(15.38) 0.73(0.14–3.58) 0.7094
 AG + AA 132(56.41) 61(67.78) 1.63(0.96–2.70) 0.0618 18(58.06) 1.07(0.51–2.22) 0.8614 20(57.14) 1.03(0.50–2.12) 0.9350 7(70.00) 1.80(0.49–6.53) 0.3953 11(78.57) 2.83(0.84–9.67) 0.1031 8(61.54) 1.24(0.38–3.44) 0.7165
MTR A2756G
 AA 87(37.18) 33(36.67) 1.00   13(41.94) 1.00   10(28.57) 1.00   2(20.00) 1.00   3(21.43) 1.00   5(38.46) 1.00  
 AG 120(51.28) 46(51.11) 1.01(0.59–1.70) 0.9686 15(48.39) 0.84(0.39–1.83) 0.6585 21(60.00) 1.52(0.70–3.29) 0.3018 6(60.00) 2.18(0.52–10.77) 0.3373 11(78.57) 2.66(0.78–9.10) 0.1289 8(61.54) 1.16(0.35–3.24) 0.8003
 GG 27(11.54) 11(12.22) 1.07(0.50–2.37) 0.8623 3(9.68) 0.74(0.21–2.60) 0.6609 4(11.43) 1.29(0.42–4.40) 0.6871 2(20.00) 3.22(0.48–21.06) 0.2295 0(0.00) NA NA 0(0.00) NA NA
 AG + GG 147(62.82) 57(63.33) 1.02(0.61–1.72) 0.9318 18(58.06) 0.82(0.39–1.71) 0.6077 25(71.43) 1.48(0.67–3.10) 0.3226 8(80.00) 2.37(0.56–11.26) 0.2691 11(78.57) 2.17(0.64–7.42) 0.2338 8(61.54) 0.95(0.29–2.64) 0.9259
MTRR A66G
 AA 75(32.05) 36(40.00) 1.00   14(45.16) 1.00   12(34.29) 1.00   3(30.00) 1.00   2(14.29) 1.00   4(30.77) 1.00  
 AG 116(49.57) 46(51.11) 0.83(0.48–1.38) 0.4747 16(51.61) 0.74(0.33–1.54) 0.4423 11(31.43) 0.59(0.26–1.36) 0.2338 3(30.00) 0.65(0.15–2.83) 0.5966 9(64.29) 0.29(0.73–13.68) 0.1615 7(53.85) 1.13(0.34–3.55) 0.8478
 GG 43(18.38) 8(8.89) 0.39(0.17–0.88) 0.026* 1(3.23) 0.12(0.01–0.71) 0.021* 12(34.29) 1.74(0.75–4.03) 0.2139 4(40.00) 2.33(0.60–9.50) 0.2719 3(21.43) 2.62(0.51–15.07) 0.2862 2(15.38) 0.87(0.16–3.88) 0.8773
 AG + GG 159(67.95) 54(60.00) 0.71(0.43–1.18) 0.1769 17(54.84) 0.57(0.27–1.19) 0.1464 23(65.71) 0.90(0.42–1.91) 0.7921 7(70.00) 1.10(0.29–4.00) 0.8917 12(85.71) 2.83(0.69–12.93) 0.1629 11(84.62) 1.06(0.44–3.81) 0.9232
  1. OR odds ratio, CI confidence interval
  2. *means p-value< 0.05