Table 1

Candidate Genes Selected for Evaluation of Common Genetic Variation as NTD Risk Factors
Gene Description No. SNPs Category*
ADA Adenosine deaminase 20 1 C
AHCY S-Adenosylhomocysteine hydrolase 4 1 C
ALDH1A2 Aldehyde dehydrogenase 1 family, member A2 24 1A
ALDH1L1 Aldehyde dehydrogenase 1 family, member L1 35 1A
AMN Amnionless homolog (mouse) 5 4
ARID1A AT rich interactive domain 1A (SWI- like) 20 3
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 9 1A
BAT8 HLA-B associated transcript 8 8 5
BHMT Betaine-homocysteine methyltransferase1 12 1 C
BHMT2 Betaine-homocysteine methyltransferase2 2 1 C
CCL2 Chemokine (C-C motif) ligand 2 (Monocyte chemoattractant protein 1) 6 5
CDKN2A Cyclin-dep. kinase inhibitor 2A (melanoma, p16, inhibitor CDK4, P14arf) 10 3
CITED2 Cbp/p300-interacting transactivator, w. Glu/Asp-rich C-teminal domain, 2 6 3
COMT Catechol-O-methyltransferase 16 1 C
CREBBP CREB binding protein (Rubinstein-Taybi syndrome) 22 3
CTH Cystathionase (cystathionine gamma-lyase) 16 1 C
CUBN Cubilin (intrinsic factor-cobalamin receptor) 141 2B
CYB5R2 Cytochrome b5 reductase2 12 1A
DHFR Dihydrofolate reductase 10 1A
DMGDH Dimethylglycine dehydrogenase 24 1A
DNMT1 DNA cytosine 5 methyltransferase1 7 1 C
DNMT3A DNA cytosine 5 methyltransferase3a 26 1 C
DNMT3B DNA cytosine 5 methyltransferase3b 19 1 C
EHMT1 euchromatic histone methyltransferase 1 20 1 C
ENOSF1 Enolase superfamily member 1 22 1A
EP300 E1A binding protein p300 10 3
EPHA3 EPH (ephrin) receptor A3 45 4
FOLH1 Folylpolyglutamate hydrolase (gamma-glutamyl hydrolase, Glutamate carboxypeptidase II) 9 2A
FOLR1 Folate receptor alpha 7 2A
FOLR2 Folate receptor 2 (fetal) 5 2A
FOLR3 Folate binding protein gamma and g 8 2A
FPGS Folylpolyglutamate synthase 4 2A
FTCD Formiminoglutamate formiminotransferase-cyclodeaminase 17 1A
FTH1 Ferritin heavy chain 11 1A
GART Phosphoribosylglycinamide formyltransferase/synthetase, phosphoribosylaminoimidazole synthetase 10 1A
GGH Lysosomal gamma-glutamylhydrolase 11 1A
GIF Intrinsic factor (gastric IF) 4 2A
GNMT Glycine N-methyltransferase 5 1 C
GRIK5 Glutamate receptor, ionotropic, kainate 5 4 4
HIF1A Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix trx factor) 11 3
HRMT1L2 PRMT1 (Protein arginine methyltransferase 1) HMT1 hnRNA Mtase-like2 8 1 C
HRMT1L3 PRMT3, HMT1 hnRNA Mtase-like3 30 1 C
ICMT Isoprenylcysteine carboxyl methyltranferase 7 1 C
IRF6 Interferon regulatory factor 6 11 3
LRP2 Megalin, low density lipoprotein-related protein 2 75 2B
LRP6 Low density lipoprotein receptor-related protein 6 24 2B
MAT1A Methionine adenosyltransferase 1 19 1 C
MAT2A Methionine adenosyltransferase II alpha 4 1 C
MAT2B Methionine adenosyltransferase II beta 9 1 C
MFTC Mitochondrial folate transporter/carrier 11 2A
MMAA Methylmalonic aciduria (cobalamin deficiency) type A 14 1B
MMAB AdoB12 adenosyltransferase, methylmalonic aciduria type B 7 1B
MMACHC Methylmalonic aciduria cblC type with homocystinuria (CblC compl group) 8 1B
MTHFD1 Methylenetetrahydrofolate dehydrogenase (NADP + dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (cytosolic) 20 1A
MTHFD1L Methylenetetrahydrofolate dehydrogenase (NADP + dependent) 1-like (Formyltetrahydrofolate synthetase domain containing 1) (mitochondrial) 115 1A
MTHFD2 Methylenetetrahydrofolate dehydrogenase (NADP + dependent) 2, methenyltetrahydrofolate cyclohydrolase (mitochondrial) 6 1A
MTHFR Methylenetetrahydrofolate reductase 19 1A
MTHFS 5,10-Methenyltetrahydrofolate synthetase 18 1A
MTR Methionine synthase 20 1B
MTRR Methionine synthase reductase 23 1B
NDOR1 NADPH dependent diflavin oxidoreductase 1 2 1A
NNMT Nicotinamide N-methyltransferase 11 1 C
NOS3 Nitric oxide synthase 3 (endothelial cell) 13 5
PADI4 peptidyl arginine deiminase, type IV 28 1 C
PAX3 Paired box gene 3 (Waardenburg syndrome 1) 51 3
PCMT1 Protein-L-isoaspartate (D-aspartate) O-methyltransferase 7 1 C
PDGFRA Platelet-derived growth factor receptor alpha 17 4
PEMT phosphatidylethanolamine N-methyltransferase 14 1 C
PGM2 pgm2 methionine synthase interacting protein 19 1B
PRMT8 Protein arginine methyltransferase 8 54 1 C
RAI1 Retinoic acid induced 1 13 4
SHMT1 Serine hydroxymethyl transferase (C) 12 1A
SHMT2 Serine hydroxymethyl transferase (M) 4 1A
SLC19A1 Reduced folate carrier 4 2A
T (Brachyury) T, brachyury homolog (mouse) 20 4
TCblR Transcobalamin II receptor 5 2B
TCN1 Transcobalamin I 2 2B
TCN2 Transcobalamin II 20 2B
TFAP2A Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 16 3
TK1 Thymidine kinase 1, soluble 12 1A
TP53 Tumor protein 53 (Li-Fraumeni syndrombe) 8 3
TYMS Thymidylate synthase 4 1A

*Category Key: 1A, Enzymatic (folate); 1B, Enzymatic (B12); 1 C, Enzymatic (methylation); 2A, Transport (folate); 2B, Transport (B12); 3, Transcription; 4, Development; 5, Other.

Pangilinan et al.

Pangilinan et al. BMC Medical Genetics 2012 13:62   doi:10.1186/1471-2350-13-62

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