Gene
|
DNA repair module
|
SNP
|
Nucleotide change
|
Location relative to gene
|
MAF in cases
|
MAF in controls
|
Genetic model
|
OR (95% CI) a
|
P
a
|
P
corr
b
|
---|
MGMT
|
DR
|
rs2296675
|
A > G
|
Intronic
|
0.21
|
0.10
| | | | |
| | | | | |
Risk per G allele c
|
2.54 (1.50, 4.30)
|
0.0006
|
0.05
|
| | | | | |
A/G + GG versus A/A d
|
2.72 (1.48, 5.03)
|
0.001
|
0.13
|
| | | | | |
G/G versus A/G + AA e
|
5.30 (1.25, 22.48)
|
0.02
|
1
|
XRCC5
|
NHEJ
|
rs1051685
|
A > G
|
3’UTR
|
0.09
|
0.16
| | | | |
| | | | | |
Risk per G allele c
|
0.39 (0.20, 0.78)
|
0.008
|
0.73
|
| | | | | |
A/G + GG versus A/A d
|
0.39 (0.18, 0.83)
|
0.01
|
1
|
| | | | | |
G/G versus A/G + AA e
|
N/A
|
N/A
|
N/A
|
ERCC5
|
BER, NER
|
rs1047768
|
C > T
|
Coding (p.His46His)
|
0.49
|
0.39
| | | | |
| | | | |
Risk per T allele c
|
1.58 (1.06, 2.35)
|
0.02
|
1
|
| | | | |
C/T + T/T versus C/C d
|
1.89 (1.05, 3.42)
|
0.03
|
1
|
| | | | |
T/T versus C/T + CC e
|
1.80 (0.88, 3.66)
|
0.11
|
1
|
PARP1
|
BER, HR, NHEJ
|
rs747659
|
C > T
|
Intergenic
|
0.12
|
0.18
| | | | |
| | | | |
Risk per T allele c
|
0.49 (0.26, 0.94)
|
0.03
|
1
|
| | | | |
C/T + T/T versus C/C d
|
0.49 (0.25, 0.97)
|
0.04
|
1
|
| | | | |
T/T versus C/T + CC e
|
N/A
|
N/A
|
N/A
|
PCNA
|
BER, MMR, NER, TLS
|
rs17349
|
C > T
|
5’UTR
|
0.14
|
0.08
| | | | |
| | | | |
Risk per T allele c
|
1.98 (1.07, 3.68)
|
0.03
|
1
|
| | | | |
C/T + T/T versus C/C d
|
1.93 (0.96, 3.85)
|
0.06
|
1
|
| | | | |
T/T versus C/T + CC e
|
8.29 (0.88, 78.3)
|
0.06
|
1
|
PMS2
|
MMR
|
rs3735295
|
G > A
|
Intronic
|
0.12
|
0.19
| | | | |
| | | | | |
Risk per A allele c
|
0.52 (0.28, 0.97)
|
0.04
|
1
|
| | | | | |
G/A + A/A versus G/G d
|
0.49 (0.24, 1.00)
|
0.05
|
1
|
| | | | | |
A/A versus G/A + A/A e
|
0.33 (0.05, 2.07)
|
0.24
|
1
|
OGG1
|
BER
|
rs125701
|
G > A
|
Intergenic
|
0.27
|
0.21
| | | | |
| | | | | |
Risk per A allele c
|
1.65 (1.01, 2.68)
|
0.04
|
1
|
| | | | | |
G/A + A/A versus G/G d
|
1.87 (1.03, 3.40)
|
0.04
|
1
|
| | | | | |
A/A versus G/A + A/A e
|
1.73 (0.47, 6.37)
|
0.41
|
1
|
- When 2 or more SNPs in the same gene showed significant association, only the best SNP is reported
-
a Dose was accounted for by including the continuous variable log(1 + dose). Subjects who received more than 2.0 Gy were excluded
-
b
P
corr
: Bonferroni corrected p-value
-
c A log-additive model (i.e. a multiplicative model of inheritance), which assumes the same increment in risk for each allele at a given locus was used
-
d Dominant model of inheritance (combined heterozygotes and rare homozygotes versus common homozygotes)
-
e Recessive model of inheritance (rare homozygotes versus combined heterozygotes and common homozygotes)
-
SNP single nucleotide polymorphism, MAF minor allele frequency, OR odds ratio, 95% CI 95% confidence interval, UTR untranslated region, N/A not applicable