The Genotype Distribution of the XRCC1, XRCC3, and XPD DNA Repair Genes and Their Role for the Development of Acute Myeloblastic Leukemia

Aim: To investigate if there is an association between the different DNA repair gene polymorphisms and the risk of development of acute myeloid leukemia (AML) in a sample of the Egyptian population and to find out if there is any interaction between these polymorphisms and the NQO1 gene that acts to protect the cells from oxidative damage. Results: Our study was conducted on 90 patients with de novo AML and 60 healthy subjects with matched age and sex. We studied polymorphisms in three DNA repair genes; XRCC1, XRCC3, and XPD. We also assessed the incidence of the NQO1 gene polymorphism. We genotyped the polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. Conclusion: The distribution of XRCC1Arg 339Gln genotypes showed a significant difference between patients and controls (p = 0.025). The presence of at least one XRCC1 399Gln allele indicated an increased risk of AML and the proportion of AML patients homozygous for the Gln/Gln allele was significantly higher than in the control group (p = 0.025). However, distributions of the XRCC3 Thr241Met, XPD Lys751Gln, and NQO1Pro 187Ser genotypes were not significantly different between patients and controls. Combined analysis of the studied DNA repair gene polymorphisms did not show an interaction with the detoxification NQO1 Pro187Ser polymorphism.