Table I.
Genotype Distributions and Allele Frequencies in Irish Controls and NTD Triads*
| Marker | Controls | NTD Children | NTD Mothers | NTD Fathers |
|---|---|---|---|---|
| Genotypes | N (freq.) | N (freq.) | N (freq.) | N (freq.) |
| Alleles | Freq. | Freq. | Freq. | Freq. |
| DNAH2 rs3744258 | ||||
| TT | 381 (0.39) | 193 (0.40) | 180 (0.39) | 161 (0.38) |
| TC | 458 (0.47) | 205 (0.43) | 221 (0.47) | 206 (0.49) |
| CC | 128 (0.13) | 82 (0.17) | 65 (0.14) | 57 (0.13) |
| T | 0.63 | 0.62 | 0.62 | 0.62 |
| C | 0.37 | 0.38 | 0.38 | 0.38 |
| TP53 rs8064946 | ||||
| GG | 796 (0.80) | 398 (0.82) | 374 (0.79) | 349 (0.79) |
| GC | 189 (0.19) | 83 (0.17) | 94 (0.20) | 80 (0.18) |
| CC | 5 (0.01) | 6 (0.01) | 8 (0.02) | 10 (0.02) |
| G | 0.90 | 0.90 | 0.88 | 0.89 |
| C | 0.10 | 0.10 | 0.12 | 0.11 |
| TP53 rs2078486 | ||||
| GG | 839 (0.86) | 425 (0.87) | 405 (0.85) | 364 (0.84) |
| GA | 133 (0.14) | 64 (0.13) | 70 (0.15) | 64 (0.15) |
| AA | 3 (0.00) | 1 (0.00) | 4 (0.01) | 3 (0.01) |
| G | 0.93 | 0.93 | 0.92 | 0.92 |
| A | 0.07 | 0.07 | 0.08 | 0.08 |
| TP53 intron 1 VNTR | ||||
| 125/125 | 16 (0.02) | 8 (0.02) | 13 (0.03) | 11 (0.03) |
| 125/130 | 134 (0.14) | 67 (0.14) | 73 (0.16) | 57 (0.13) |
| 125/135 | 63 (0.07) | 29 (0.06) | 23 (0.05) | 28 (0.07) |
| 125/other | 12 (0.01) | 9 (0.02) | 10 (0.02) | 9 (0.02) |
| 130/130 | 350 (0.36) | 157 (0.32) | 163 (0.35) | 144 (0.34) |
| 130/135 | 238 (0.25) | 136 (0.28) | 109 (0.23) | 111 (0.26) |
| 130/other | 74 (0.08) | 37 (0.08) | 31 (0.07) | 25 (0.06) |
| 135/135a | 40 (0.04) | 28 (0.06) | 35 (0.07) | 28 (0.07) |
| 135/other | 34 (0.04) | 15 (0.03) | 10 (0.02) | 14 (0.03) |
| other/other | 2 (0.00) | 1 (0.00) | 2 (0.00) | 1 (0.00) |
| 125 | 0.13 | 0.12 | 0.14 | 0.14 |
| 130 | 0.60 | 0.57 | 0.57 | 0.56 |
| 135 | 0.22 | 0.24 | 0.23 | 0.24 |
| other | 0.06 | 0.06 | 0.06 | 0.06 |
| TP53 rs1642785 | ||||
| GG | 522 (0.55) | 292 (0.60) | 258 (0.54) | 240 (0.56) |
| GC | 374 (0.40) | 169 (0.35) | 198 (0.42) | 161 (0.38) |
| CC | 50 (0.05) | 28 (0.06) | 18 (0.04) | 27 (0.06) |
| G | 0.75 | 0.77 | 0.75 | 0.75 |
| C | 0.25 | 0.23 | 0.25 | 0.25 |
| TP53 rs17878362 (indel) | ||||
| del del | 731 (0.75) | 378 (0.78) | 369 (0.77) | 325 (0.75) |
| del ins | 224 (0.23) | 100 (0.21) | 106 (0.22) | 98 (0.23) |
| ins ins | 14 (0.01) | 7 (0.01) | 4 (0.01) | 8 (0.02) |
| del | 0.87 | 0.88 | 0.88 | 0.87 |
| ins | 0.13 | 0.12 | 0.12 | 0.13 |
| TP53 rs1042522 R72P | ||||
| GG | 539 (0.55) | 294 (0.60) | 261 (0.54) | 235 (0.54) |
| GC | 385 (0.39) | 170 (0.34) | 203 (0.42) | 170 (0.39) |
| CC | 58 (0.06) | 29 (0.06) | 17 (0.04) | 27 (0.06) |
| G | 0.74 | 0.77 | 0.75 | 0.74 |
| C | 0.26 | 0.23 | 0.25 | 0.26 |
| TP53 rs1625895 | ||||
| GGb | 756 (0.77) | 401 (0.82) | 386 (0.81) | 352 (0.80) |
| GA | 222 (0.22) | 83 (0.17) | 90 (0.19) | 81 (0.18) |
| AA | 10 (0.01) | 7 (0.01) | 3 (0.01) | 6 (0.01) |
| G | 0.88 | 0.90 | 0.90 | 0.89 |
| A | 0.12 | 0.10 | 0.10 | 0.11 |
| TP53 rs6503048 | ||||
| CC | 832 (0.85) | 417 (0.86) | 398 (0.86) | 370 (0.86) |
| CT | 138 (0.14) | 61 (0.13) | 64 (0.14) | 54 (0.13) |
| TT | 7 (0.01) | 6 (0.01) | 2 (0.00) | 4 (0.01) |
| C | 0.92 | 0.92 | 0.93 | 0.93 |
| T | 0.08 | 0.08 | 0.07 | 0.07 |
| TP53 rs1614984 | ||||
| CC | 311 (0.32) | 166 (0.34) | 149 (0.32) | 139 (0.33) |
| CT | 478 (0.49) | 234 (0.48) | 248 (0.53) | 200 (0.47) |
| TTc | 192 (0.20) | 87 (0.18) | 73 (0.16) | 84 (0.20) |
| C | 0.56 | 0.58 | 0.58 | 0.57 |
| T | 0.44 | 0.42 | 0.42 | 0.43 |
| MDM2 rs2279744 | ||||
| TT | 423 (0.43) | 209 (0.43) | 202 (0.43) | 191 (0.44) |
| TG | 439 (0.45) | 235 (0.48) | 221 (0.47) | 198 (0.46) |
| GG | 115 (0.12) | 46 (0.09) | 51 (0.11) | 45 (0.10) |
| T | 0.66 | 0.67 | 0.66 | 0.67 |
| G | 0.34 | 0.33 | 0.34 | 0.33 |
*
Due to rounding, group frequencies may not add up to 1.
a
135/135 mothers vs controls: OR = 1.86 [1.16-2.96, p=0.01]
b
GG cases vs. controls: OR = 1.37 [1.04-1.79, p=0.024]
c
TT NTD mothers: RR = 0.58 [0.37-0.91, p=0.019]