Table 1 Candidate Genes Selected for Evaluation of Common Genetic Variation as NTD Risk Factors

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