Download Supplementary Table 1: Polymorphisms selected for

Supplementary Table 1: Polymorphisms selected for possible genotyping of childhood acute lymphoblastic leukemia cases and controls
Gene
Polymorphism
AA change
MTR2
155G>A
2756A>G
2758C>G
66A>G
524C>T
R52Q
D919G
H920D
I22M
S175L
4
MTRR
997C>G
1049A>G
MTHFD15
TYMS6
SHMT110
RFC111
DHFR12
FOLR113
1243C>T
1783C>T
401C>T
1958G>A
2R3R7
1494del69
349T>C
470G>T
500C>T
1420C>T
80G>A
829C>T
82C>T
480G>C
L333V
K350R
R415C
H595Y
K134R
R653Q
28-bp repeats
6-bp deletion
F117L
G157V
T167I
L474F
H127R
3’-UTR
W28R
W160C
SNP id
rs12749581
rs1805087
rs28933097
rs1801394
rs1532268
rs10064631
rs162036
rs2287780
rs10380
rs1950902
rs2236225
E3333-18
rs28365050
rs11540152
rs596909
rs11540153
rs1979277
rs1051266
rs7928649
rs1801932
MAF1
Source or Reference
0.01
0.13
0.48
0.36
0.24
0.09
0.17
0.25
0.01
0.19
0.20
0.45
0.50
0.40
0.38
0.50
0.16
0.05
-
dbSNP (NCBI)3
1
dbSNP (NCBI)
1
2
2
dbSNP (NCBI)
2
dbSNP (NCBI)
2
dbSNP (NCBI)
dbSNP (NCBI)
3
4
4
dbSNP (NCBI)
dbSNP (NCBI)
dbSNP (NCBI)
4
2
5
6
6
References
1
2
3
4
5
6
1
Gemmati D, Ongaro A, Scapoli GL, Della Porta M, Tognazzo S, Serino ML et al. Common gene polymorphisms in the
metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in
adults. Cancer Epidemiol Biomarkers Prev. 2004;13:787-794.
O'Leary VB, Mills JL, Pangilinan F, Kirke PN, Cox C, Conley M et al. Analysis of methionine synthase reductase
polymorphisms for neural tube defects risk association. Mol Genet Metab. 2005;85:220-227.
Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL et al. A polymorphism, R653Q, in the trifunctional enzyme
methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a
maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet.
2002;71:1207-1215.
Skibola CF, Smith MT, Hubbard A, Shane B, Roberts AC, Law GR et al. Polymorphisms in the thymidylate synthase and
serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia. Blood. 2002;99:3786-3791.
Goto Y, Yue L, Yokoi A, Nishimura R, Uehara T, Koizumi S et al. A novel single-nucleotide polymorphism in the 3'untranslated region of the human dihydrofolate reductase gene with enhanced expression. Clin Cancer Res. 2001;7:1952-1956.
Vesela K, Pavlikova M, Janosikova B, Andel M, Zvarova J, Hyanek J et al. Genetic determinants of folate status in Central
Bohemia. Physiol Res. 2005;54:295-303.
Minor allele frequency;
MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase (alias methionine synthase);
3
Single nucleotide database of National Center of Biotechnology (NCBI; www.ncbi.nlm.nih.gov);
4
MTRR, 5-methylenetetrahydrofolate-homocysteine methyltransferase reductase (alias methionine synthase reductase);
5
MTHFD1, 5,10-methylenetetrahydrofolate dehydrogenase;
6
TYMS, Thymidylate synthase;
7
2R and 3R are two and three 28-bp repeats in the 5’UTR of the TYMS gene, respectively;
8
Source: SNP500 database (Cancer Genome Anatomy Project, snp500cancer.nci.nih.gov );
9
6-bp deletion in the 3’UTR of the TYMS gene;
10
SHMT1, serine hydroxymethyltransferase;
11
RFC1, reduced folate carrier;
12
DHFR, dihydrofolate reductase;
13
FOLR1, folate receptor
2