Table 1

MTHFD1LGenotyping Results in Triads (Cases, Mother and Fathers) and Controls for CLP and CPO (Isolated) or with Other Defects (Multiple)
DIPrs3832406 Isolated defects Multiple defects
CLP Fathers Mothers Cases Fathers Mothers Cases Controls
n % n % n % n % n % n % n %
11 162 41.8 187 40.1 209 41.9 174 42.0 203 40.8 231 43.5 419 42.1
12 102 26.3 128 27.5 149 29.9 116 28.0 140 28.1 163 30.7 267 26.8
13 76 19.6 89 19.1 84 16.8 82 19.8 97 19.5 91 17.1 196 19.7
22 18 4.6 24 5.2 18 3.6 18 4.3 24 4.8 18 3.4 40 4.0
23 24 6.2 31 6.7 28 5.6 24 5.8 34 6.8 28 5.3 52 5.2
33 6 1.5 7 1.5 11 2.2 6 1.4 7 1.4 11 2.1 21 2.1
Total 388 466 499 420 505 542 995
CPO Fathers Mothers Cases Fathers Mothers Cases
n % n % n % n % n % n %
11 98 37.3 118 38.1 134 41.7 145 40.8 154 36.9 175 41.0
12 78 29.7 82 26.5 88 27.4 97 27.3 110 26.4 118 27.6
13 60 22.8 69 22.3 62 19.3 77 21.7 99 23.7 86 20.1
22 8 3.0 12 3.9 7 2.2 8 2.3 18 4.3 9 2.1
23 18 6.8 20 6.5 23 7.2 25 7.0 26 6.2 29 6.8
33 1 0.4 9 2.9 7 2.2 3 0.8 10 2.4 10 2.3
Total 263 310 321 355 417 427
SNPrs17080476 Isolated defects Multiple defects
CLP Fathers Mothers Cases Fathers Mothers Cases Controls
n % n % n % n % n % n % n %
AA 268 68.2 296 63.1 320 63.1 285 67.1 320 62.9 344 62.5 660 65.9
AG 110 28.0 160 34.1 170 33.5 124 29.2 176 34.6 188 34.2 308 30.8
GG 15 3.8 13 2.8 17 3.4 16 3.8 13 2.6 18 3.3 33 3.3
Total 393 469 507 425 509 550 1001
Isolated defects Multiple defects
CPO Fathers Mothers Cases Fathers Mothers Cases
n % n % n % n % n % n %
AA 173 65.5 205 65.7 214 65.6 234 65.9 274 65.6 288 66.8
AG 86 32.6 93 29.8 100 30.7 115 32.4 127 30.4 125 29.0
GG 5 1.9 14 4.5 12 3.7 6 1.7 17 4.1 18 4.2
Total 264 312 326 355 418 431

Minguzzi et al.

Minguzzi et al. BMC Medical Genetics 2012 13:29   doi:10.1186/1471-2350-13-29

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