Table 4.
Haplotype frequencies of maternal MTHFR genetic polymorphisms across different comparison groups
| Haplotypes | Controls (%) | Cases (%) | OR (95% CI)† | P |
|---|---|---|---|---|
| Total CHD group versus the control group | ||||
| rs4846048-rs2274976 | ||||
| A–C | 1007.3 (77.2) | 853.5 (75.0) | 1 | |
| G–C | 138.7 (10.6) | 153.5 (13.5) | 1.31 (1.02–1.67) | 0.034 |
| A–T | 155.7 (11.9) | 129.5 (11.4) | 0.98 (0.76–1.26) | 0.884 |
| rs1801133-rs4846052 | ||||
| G–C | 816.3 (62.6) | 609.3 (53.5) | 1 | |
| A–C | 396.7 (30.4) | 361.7 (31.8) | 1.22 (1.02–1.46) | 0.027 |
| G–T | 88.7 (6.8) | 160.7 (14.1) | 2.43 (1.84–3.21) | < 0.001 |
| rs2066470-rs3737964-rs535107 | ||||
| G–C–A | 979.8 (75.1) | 832.5 (73.2) | 1 | |
| G–T–G | 112.2 (8.6) | 152.6 (13.4) | 1.60 (1.23–2.08) | < 0.001 |
| A–C–G | 117.0 (9.0) | 138.6 (12.2) | 1.39 (1.07–1.81) | 0.013 |
| G–C–G | 47.5 (3.6) | 11.6 (1.0) | 0.29 (0.15–0.55) | < 0.001 |
| The ASD group versus the control group | ||||
| rs4846048-rs2274976 | ||||
| A–C | 1007.4 (77.3) | 146.4 (77.1) | 1 | |
| A–T | 155.6 (11.9) | 20.6 (10.8) | 0.91 (0.56–1.49) | 0.710 |
| G–C | 138.6 (10.6) | 22.6 (11.9) | 1.12 (0.70–1.81) | 0.636 |
| rs1801131-rs1801133-rs4846052 | ||||
| T–G–C | 687.7 (52.7) | 73.1 (38.5) | 1 | |
| T–A–C | 388.1 (29.8) | 59.7 (31.4) | 1.45 (1.01–2.08) | 0.046 |
| G–G–C | 137.2 (10.5) | 26.2 (13.8) | 1.80 (1.11–2.91) | 0.017 |
| G–G–T | 74.5 (5.7) | 22.1 (11.6) | 2.79 (1.64–4.75) | < 0.001 |
| rs2066470-rs3737964 | ||||
| G–C | 1025.9 (78.7) | 142.0 (74.7) | 1 | |
| A–C | 138.1 (10.6) | 24.0 (12.7) | 1.26 (0.79–2.00) | 0.340 |
| G–T | 134.1 (10.3) | 23.0 (12.1) | 1.24 (0.77–1.99) | 0.377 |
| The VSD group versus the control group | ||||
| rs4846048-rs2274976 | ||||
| A–C | 1007.4 (77.3) | 535.5 (75.0) | 1 | |
| A–T | 155.6 (11.9) | 81.5 (13.5) | 0.99 (0.74–1.31) | 0.920 |
| G–C | 138.6 (10.6) | 87.5 (11.4) | 1.19 (0.89–1.58) | 0.241 |
| rs1801133-rs4846052 | ||||
| G–C | 814.0 (62.4) | 378.0 (53.5) | 1 | |
| A–C | 399.0 (30.6) | 232.0 (31.8) | 1.25 (1.02–1.53) | 0.030 |
| G–T | 91.0 (7.0) | 96.0 (14.1) | 2.27 (1.66–3.10) | < 0.001 |
| rs2066470-rs3737964 | ||||
| G–C | 1025.8 (78.7) | 530.4 (73.2) | 1 | |
| A–C | 138.2 (10.6) | 87.6 (12.2) | 1.23 (0.92–1.63) | 0.165 |
| G–T | 134.2 (10.3) | 84.6 (1.0) | 1.22 (0.91–1.63) | 0.183 |
| The PDA group versus the control group | ||||
| rs4846048-rs2274976 | ||||
| A–C | 1007.3 (77.2) | 246.4 (72.5) | 1 | |
| G–C | 138.7 (10.6) | 62.6 (18.4) | 1.85 (1.33–2.57) | < 0.001 |
| A–T | 155.7 (11.9) | 30.6 (9.0) | 0.80 (0.53–1.21) | 0.298 |
| rs1801133-rs4846052 | ||||
| G–C | 814.0 (62.4) | 186.0 (54.7) | 1 | |
| A–C | 399.0 (30.6) | 103.0 (30.3) | 1.13 (0.86–1.48) | 0.374 |
| G–T | 91.0 (7.0) | 51.0 (15.0) | 2.45 (1.68–3.58) | < 0.001 |
| rs2066470-rs3737964 | ||||
| G–C | 1025.6 (78.7) | 245.0 (72.1) | 1 | |
| G–T | 134.4 (10.3) | 62.0 (18.2) | 1.93 (1.39–2.69) | < 0.001 |
| A–C | 138.4 (10.6) | 32.0 (9.4) | 0.97 (0.64–1.46) | 0.876 |
MTHFR Methylenetetraphydrofolate reductase, CHD congenital heart disease, ASD atrial septal defect, VSD ventricular septal defect, PDA patent ductus arteriosus, OR odds ratio, CI confidence interval
†The OR values and 95% CIs were calculated using binary logistic regression