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We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymesXPD(exon 23 A → C, K751Q),XPG(exon 15 G → C, D1104H),XPC(exon 15 A → C, K939Q),XRCC1(exon 10 G → A, R399Q) andXRCC3(exon 7 C → T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. We also measured the irradiation-specific DNA repair rates and the repair rates of 8-oxoguanines in these individuals. An elevated frequency of CAs was observed in individuals with theXPDexon 23Aallele (AAandAC) genotypes (F= 3.6,P= 0.028, ANOVA). In multifactorial analysis of variance, theXPDexon 23 polymorphism appeared as a major factor influencing CAs (F= 4.2,P= 0.017). SSBs in DNA, on the other hand, were modulated byXPD(F= 4.3,P= 0.023),XPG(F= 4.3,P= 0.024) andXRCC1genotypes (F= 3.0,P= 0.064). Irradiation-specific DNA repair rates (reflecting mainly base excision repair activity) were affected byXRCC1(F= 5.9,P= 0.010) andXPCpolymorphisms (F= 4.2,P= 0.046, MANOVA). Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes encoding DNA repair enzymes.

Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and single-strand breaks in DNA