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. Author manuscript; available in PMC: 2014 Mar 28.
Published in final edited form as: Methods Mol Biol. 2009;471:361–385. doi: 10.1007/978-1-59745-416-2_18

Table 2.

SNPs in DNA repair genes and their functional relation.

Pathway Gene SNP ID# Minor Allele Frequency
 Function Reference
White Black Asian
BER ADPRT V762A rs1136410 0.11 0.06 0.33 Decrease enzyme activities in response to H2O2 [28]
BER APE1 D148E rs3136820 0.49 0.32 0.28 Hypersensitivity to ionizing radiation [66]
BER APE1 Q51H rs1048945 0.03 0 0 Regulate the DNA binding activity [73]
DRCC ATM P1054R rs1800057 0.02 0 0 Affect the cellular response after exposure to ionizing radiation [30]
BER hOGG1 S326C rs1052133. 0.23 0.38 0.10 No difference in DNA repair capacity between genotypes. [41–46, 103]
326Cys allele was associated with a decrease in p53 mutations. [47]
Suppression of mutagenesis is lower in hOGG1 326Cys. [38]
No difference in adducts between genotypes. [40],
Adduct level was higher in CC genotypes [48, 104] [105]
DR MGMT I143V rs2308321 0.13 0 0 More resistant to inactivation by MGMT pseudosubstrate, O6-(4-bromothenyl) guanine. [98]
DR MGMT L84F rs12917 0.11 0.17 0.11 No affect on cell survival after exposure to N-methyl-N '-nitro-N-nitrosoguanidine. [97]
NER hHR23B A249V rs1805329 0.15 0.26 0 No affect NER activity by plasmid-based NER assay [17]
NER XPC A499V rs2228000 0.10 0.05 0 Affect NER activity by plasmid-based NER assay [17]
NER XPC K939Q rs2228001 0.13 0.13 0 Linkage disequilibrium with intron 9, 5bp deletion which cause alternative splicing. [106]
NER XPD/ERCC2 –c114g rs3810366 0.42 0.91 0.51 SNP in the promoter region [20]
NER XPD/ERCC2 D312N rs1799793 0.31 0 0.06 Affect NER activity by plasmid-based NER assay [17]
NER XPD/ERCC2 K751Q rs1052559 0.27 0.04 0.17 Higher number of chromatid aberrations. [84]
No association in SCE frequency or DNA adduct level. [85]
Higher adduct level among never smokers. [65]
NER XPF/ERCC4 R415Q rs1800067 0.05 0 0 Reduced repair of aromatic DNA adducts [83]
NER XPG/ERCC5 D1104H rs17655 0.27 0.44 0.46 Affect NER activity by plasmid-based NER assay [17]
BER XRCC1 R194W rs1799782 0.05 0.24 0.08 No association with DNA-adduct levels, mutation rates, or sensitivity to ionizing radiation [66–68, 70]
Lower bleomycin and benzo(a)pyrene diol epoxide sensitivity in vitro. [64]
BER XRCC1 R280H rs25489 0.03 0.08 0.06 Higher bleomycin sensitivity [71, 72]
BER XRCC1 R399Q rs25487 0.47 0.45 0.10 Higher levels of aflatoxin B1-DNA adducts and higher bleomycin sensitivity [68, 70, 107]
DSBR XRCC3 T241M rs861539 0.42 0.15 0.24 Hypersensitive to DNA damaging agents [89]