Table 2.
Genotyping Results in Controls and Triads (Cases, Mother and Fathers) for CLP and CPO (Isolated) or with Other Defects (Multiple)
|
TCII 776C→G |
Isolated defects |
Multiple defects |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CC |
CG |
GG |
CC |
CG |
GG |
|||||||
| CLP | n | % | n | % | n | % | n | % | n | % | n | % |
| Controls | 347 | 31.6 | 532 | 48.5 | 218 | 19.9 | ||||||
| Case | 99 | 31.3 | 153 | 48.4 | 64 | 20.2 | 106 | 30.6 | 166 | 48.0 | 74 | 21.4 |
| Mother | 88 | 27.8 | 162 | 51.3 | 66 | 20.9 | 91 | 26.4 | 180 | 52.3 | 73 | 21.2 |
| Father | 86 | 32.3 | 128 | 48.1 | 52 | 19.6 | 94 | 32.4 | 140 | 48.3 | 56 | 19.3 |
| CC |
CG |
GG |
CC |
CG |
GG |
|||||||
| CPO | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Case | 65 | 31.5 | 99 | 48.1 | 42 | 20.4 | 85 | 30.1 | 136 | 48.2 | 61 | 21.6 |
| Mother | 62 | 30.2 | 99 | 48.3 | 44 | 21.5 | 90 | 32.4 | 133 | 47.8 | 55 | 19.8 |
| Father | 60 | 32.4 | 93 | 50.3 | 32 | 17.3 | 74 | 29.5 | 133 | 53.0 | 44 | 17.5 |
|
| ||||||||||||
|
MTHFR 677C→T |
Isolated defects |
Multiple defects |
||||||||||
| CC |
CT |
TT |
CC |
CT |
TT |
|||||||
| CLP | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Controls | 715 | 44.7 | 721 | 45.1 | 163 | 10.2 | ||||||
| Case | 217 | 44.1 | 221 | 44.9 | 54 | 11.0 | 236 | 44.2 | 235 | 44.0 | 63 | 11.8 |
| Mother | 205 | 44.1 | 212 | 45.6 | 48 | 10.3 | 221 | 43.8 | 233 | 46.1 | 51 | 10.1 |
| Father | 174 | 44.2 | 177 | 44.9 | 43 | 10.9 | 186 | 43.8 | 196 | 46.1 | 43 | 10.1 |
| CC |
CT |
TT |
CC |
CT |
TT |
|||||||
| CPO | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Case | 148 | 46.1 | 142 | 44.2 | 31 | 976 | 194 | 45.6 | 187 | 44.0 | 44 | 10.4 |
| Mother | 139 | 45.1 | 125 | 40.6 | 44 | 14.3 | 191 | 46.4 | 166 | 40.3 | 55 | 13.3 |
| Father | 115 | 42.3 | 130 | 47.8 | 27 | 9.9 | 157 | 42.9 | 172 | 47.0 | 37 | 10.1 |
|
| ||||||||||||
|
MTHFR 1298A→C |
Isolated defects |
Multiple defects |
||||||||||
| AA |
AC |
CC |
AA |
AC |
CC |
|||||||
| CLP | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Controls | 519 | 49.4 | 439 | 41.8 | 92 | 8.8 | ||||||
| Case | 202 | 49.6 | 172 | 42.3 | 33 | 8.1 | 223 | 50.6 | 183 | 41.5 | 35 | 7.9 |
| Mother | 179 | 48.9 | 164 | 44.8 | 23 | 6.3 | 198 | 49.7 | 175 | 44.0 | 25 | 6.3 |
| Father | 160 | 50.2 | 127 | 39.8 | 32 | 10.0 | 171 | 49.7 | 140 | 40.7 | 33 | 9.6 |
| AA |
AC |
CC |
AA |
AC |
CC |
|||||||
| CPO | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Case | 126 | 47.5 | 120 | 45.3 | 19 | 7.2 | 168 | 48.1 | 155 | 44.4 | 26 | 7.4 |
| Mother | 132 | 53.4 | 86 | 34.8 | 29 | 11.7 | 175 | 53.0 | 123 | 37.3 | 32 | 9.7 |
| Father | 100 | 46.5 | 95 | 44.2 | 20 | 9.3 | 135 | 46.9 | 124 | 43.1 | 29 | 10.1 |
|
| ||||||||||||
|
MTHFD1 1958G→A |
Isolated defects |
Multiple defects |
||||||||||
| GG |
AG |
AA |
GG |
AG |
AA |
|||||||
| CLP | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Controls | 290 | 27.3 | 570 | 53.7 | 202 | 19.0 | ||||||
| Case | 106 | 27.2 | 189 | 48.6 | 94 | 24.2 | 112 | 26.5 | 208 | 49.2 | 103 | 24.3 |
| Mother | 112 | 30.5 | 163 | 44.4 | 92 | 25.1 | 122 | 30.6 | 180 | 45.1 | 97 | 24.3 |
| Father | 84 | 26.6 | 165 | 52.2 | 67 | 21.2 | 88 | 25.8 | 178 | 52.2 | 75 | 22.0 |
| GG |
AG |
AA |
GG |
AG |
AA |
|||||||
| CPO | n | % | n | % | n | % | n | % | n | % | n | % |
|
| ||||||||||||
| Case | 55 | 21.9 | 138 | 55.0 | 58 | 23.1 | 70 | 21.0 | 182 | 54.5 | 82 | 24.6 |
| Mother | 68 | 27.6 | 113 | 45.9 | 65 | 26.4 | 84 | 25.5 | 158 | 48.0 | 87 | 26.4 |
| Father | 56 | 26.4 | 106 | 50.0 | 50 | 23.6 | 73 | 25.6 | 138 | 48.4 | 74 | 26.0 |