|
| Genes (40 genes) | Population and sample size (in brackets) of spina bifida cases | References |
| Studies showed association with genes related NTDs or risk factor for spina bifida | Studies showed no association with genes related NTDs |
|
| One carbon metabolism (including homocysteine remethylation) (8 genes) |
| ALDH1L1 | Dutch (180 patients) | | [55] |
| BHMT | Mixed USA (259 cases) | Mixed USA (252 cases), Dutch (180 patients) | [55–57] |
| CHKA | Mixed USA (103 cases) | | [58] |
| MTRR | Mixed USA (259 cases), mixed UK (229 patients), Dutch (109 cases) | Irish (575 mixed families), Dutch (109 cases; 180 patients) | [55, 56, 59–61] |
| NOS3 | Mixed USA (301 families), Dutch (109 cases) | Mixed USA (259 cases), Dutch (180 patients) | [55, 56, 62, 63] |
| PYCT1A | Mixed USA (103 cases) | | [58] |
| SARDH | Dutch (180 patients) | | [55] |
| TRDMT1 | Dutch (180 cases) | | [55] |
|
| NTDs in mouse mutant (7 genes) |
| BRCA1 | Mixed USA (268 patients and parents) | | [64] |
| CFL1 | Mixed USA (246 cases) | | [65] |
| PAX3 | USA (74 cases) | | [66] |
| PDGFRA | Dutch (88 cases and 56 mothers) | Mixed USA (407 triads) | [67, 68] |
| TXN2 | Mixed USA (48 cases) | | [69] |
| ZIC2 | Dutch (117 mixed patients) | | [70] |
| ZIC3 | Dutch (117 mixed patients) | | [70] |
|
| Folate metabolism (5 genes) |
| CBS | Mixed USA (259 cases) | Dutch (180 patients) | [55, 56] |
| DHFR | Irish (283 cases), mixed USA (61 cases, multiaffected families) | Mixed USA (259 cases), mixed UK (229 patients), Dutch (180 patients; 109 patients) | [55, 56, 71–73] |
| MTHFD1 | Irish (509 mixed cases), mixed USA (259 mixed cases), Italian (142 cases), Irish (176 mixed cases) | Mixed UK (229 patients), Dutch (103 cases), Dutch (180 patients) | [55, 56, 59, 62, 71, 74–76] |
| MTHFR | Irish (451 cases), mixed USA (259 cases), mixed UK (229 patients), Italian (15 cases) | Dutch (180 patients), Mexican (Yucatan) (97 cases), Italian (15 cases) | [55, 56, 59, 60, 77, 78] |
| TYMS | Non-Hispanic white USA (264 cases), mixed USA (259 cases) | Dutch (180 patients) | [55, 56, 79] |
|
| Glucose metabolism (4 genes) |
| GLUT1 | Mixed USA (507 cases) | | [80] |
| HK1 | Mixed USA (507 cases) | | [80] |
| LEP | Mixed USA (507 cases) | | [80] |
| LEPR | Mixed USA (507 cases) | | [80] |
|
| DNA repair and DNA methylation (3 genes) |
| APE1 | Mixed USA (380 patients) | | [81] |
| XPD | Mixed USA (380 patients) | | [81] |
| SOX18 | Belgium (83 patients) | | (Rochtus et al., 2016) |
|
| Folate transport (2 genes) |
| CUBN | Dutch (179 patients) | | [55] |
| SLCA19A1, RFC-1 | Dutch (180 patients) | Mixed USA (259 cases), mixed UK (229 patients) | [55, 56, 59] |
|
| PCP genes (4 gene) |
| VANGL1 | Italian and mixed USA (658 patients), Italian and French (102 patients) | Mixed UK and USA (24 patients) | [44, 82, 83] |
| CELSR1 | California (192 patients) | | [84] |
| SCRIB | California (192 patients) | | [85] |
| DVL1 | Han Chinese cohort (20 cases) | | [86] |
|
| Retinol metabolism (1 gene) |
| ALDH1A2 | Mixed USA (318 families) | | [87] |
|
| Axial development in mouse (1 gene) |
| T (brachyury) | Mixed USA (316 cases) | | [88] |
|
| Methylation reactions (1 gene) |
| PCMT1 | Mixed USA (152 cases) | Dutch (180 patients) | [55, 89] |
|
| Oxidative stress (2 genes) |
| SOD1 | Mixed USA (610 trios or duos) | | [90] |
| SOD2 | Mixed USA (610 trios or duos) | | [90] |
|
| Intermediate filament protein (1 gene) |
| LMNB1 | Mixed UK, USA, and Swedish (233 patients) | | [91] |
|
| Cell adhesion molecules (1 gene) |
| NCAM1 | USA (204 patients) | | [92] |
|
