Table II.
Risk Ratios (RR) and 95% Confidence Intervals (CI) with P-values for Paternally-derived Effects for the Top 20 SNPs Identified from Hybrid Analyses compared to Maternally-derived Effects for Common Variants in Genes Involved in Folate, Homocysteine and Transsulfuration Pathways and Risk of Conotruncal Heart Defects among XXX, The National Birth Defects Prevention Study, USA, October 1997 – August 2008 Births (n=616 case families) (highlighted SNPs are significant SNPs with p-value ≤ 5.43×10-5).
| Pathway | Gene Symbol | dbSNP ID | Chromosome | Genotype | Maternally-derived effect | Paternally-derived Relative Risk (95% CI) | P-value for paternal vs. maternal effect |
|---|---|---|---|---|---|---|---|
| Transsulfuration | GLRX | rs17085159 | 5 | A/G | referent | 0.23 (0.12, 0.44) | 2.66×10-6 |
| Transsulfuration | GSR | rs7818511 | 8 | A/G | referent | 0.31 (0.18, 0.53) | 9.94×10-6 |
| Transsulfuration | GLRX | rs12109442 | 5 | T/A | referent | 0.27 (0.14, 0.50) | 2.06×10-5 |
| Homocysteine | MTRR | rs1801394 | 5 | G/A | referent | 0.48 (0.33, 0.71) | 8.72×10-5 |
| Transsulfuration | GSTA3 | rs614765 | 6 | G/C | referent | 0.41 (0.25, 0.67) | 2.70×10-4 |
| Folate | MTHFD2 | rs6745054 | 2 | G/A | referent | 0.47 (0.31, 0.72) | 3.05×10-4 |
| Transsulfuration | GCLC | rs13437395 | 6 | G/A | referent | 0.40 (0.24, 0.67) | 3.68×10-4 |
| Transsulfuration | OGG1 | rs2072668 | 3 | G/C | referent | 0.47 (0.31, 0.73) | 3.95×10-4 |
| Transsulfuration | MGMT | rs483959 | 10 | A/G | referent | 0.53 (0.36, 0.77) | 5.05×10-4 |
| Homocysteine | DNMT3B | rs7360212 | 20 | C/A | referent | 0.22 (0.09, 0.53) | 5.23×10-4 |
| Transsulfuration | GLRX | rs11953653 | 5 | A/G | referent | 1.78 (1.29, 2.45) | 5.98×10-4 |
| Transsulfuration | MGMT | rs4751106 | 10 | A/C | referent | 0.55 (0.39, 0.79) | 6.93×10-4 |
| Transsulfuration | GCLC | rs2277108 | 6 | A/G | referent | 0.43 (0.26, 0.71) | 6.96×10-4 |
| Transsulfuration | SOD1 | rs16988427 | 21 | G/A | referent | 0.32 (0.16, 0.63) | 7.29×10-4 |
| Transsulfuration | GSTP1 | rs7927381 | 11 | A/G | referent | 0.46 (0.28, 0.73) | 8.35×10-4 |
| Transsulfuration | GCLC | rs606548 | 6 | A/G | referent | 0.42 (0.25, 0.72) | 1.14×10-3 |
| Transsulfuration | GCLC | rs12524494 | 6 | G/A | referent | 0.41 (0.23, 0.71) | 1.29×10-3 |
| Folate | RFC1 | rs2062228 | 4 | A/G | referent | 0.23 (0.09, 0.59) | 1.46×10-3 |
| Transsulfuration | MGMT | rs544217 | 10 | A/G | referent | 0.58 (0.41, 0.82) | 1.50×10-3 |
| Transsulfuration | GCLC | rs13437220 | 6 | C/G | referent | 0.45 (0.27, 0.74) | 1.55×10-3 |