The frequency and association of C609T and C465T polymorphisms of NAD(P)H: Quinone oxidoreductase gene with adult acute myeloid leukemia

Objective: Genetic variations and mutations are the etiological factors of leukemia. NAD(P)H:quinone oxidoreductase (NQO1) plays an important role in the detoxification of quinones. C609T and C465T are 2 common polymorphisms in NQO1 resulting in lower NQO1 activity compared with wild type (CC). We assessed the frequency of C609T (NQO1*2; Proline to Serine) and C465T (NQO1*3; Arginine to Tryptophane) polymorphisms of the NQO1 gene among the Iranian population to determine the association between these polymorphisms and a susceptibility to adult acute myeloid leukemia (AML). Materials and Methods: Frequencies of NQO1 gene polymorphisms were determined in 140 AML patients for NQO1*2 and NQO1*3. In addition, 160 age-sex matched healthy individuals participated in this study as a control group. Genotyping was done using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) assays. Results: No significant association was observed between these 2 polymorphisms of NQO1 and the risk of AML. Odds ratio (OR) for C609T and C465T were 0.917 (95% CI=0.513-1.639) and 1.976 (95% CI=0.549-7.121), respectively. Men showed a higher incidence of C609T and C465T NQO1 than women. The majority of patients with a mutant allele were diagnosed as M3 sub type of French-American-British (FAB) classification. Conclusions: Our findings suggest that the NQO1 C609T and C465T gene variants do not have a major influence on the susceptibility to adult AML. Interestingly, we found a higher incidence of the T allele in NQO1*2 than NQO1*3 in the control and patient groups. Further studies are required to validate these findings across different populations.