DETECTION OF GENETIC POLYMORPHISM OF NAD (P) H: QUINONE OXIDOREDUCTASE 1 (NQO1) AMONG SUDANESE PATIENTS WITH ACUTE MYELOID LEUKAEMIA

Abstract

AML is a prevalent haematological cancer among Sudanese population. Previous studies reported an association between NQO1 polymorphism and leukaemia, however these studies showed differences in the occurrence and frequency of this relationship. This study aimed to examine the association of NQO1 C609T polymorphism with the risk of AML and the clinical outcome among AML patients in Sudan. The study included 75 newly diagnosed AML patients, their NQO1 C609T genotypes (detected by PCR/RFLP) and haematological charecteristics (determined by Sysmex KX-21N) were determined and compared with 100 ages and sex matched normal subjects as control. When the NQO1 609 CC genotype was defined as the reference, a 2.4-fold increased risk of AML for those carrying NQO1 609CT (heterozygous) genotype was observed (OR 2.421, Pvalue 0.012). The frequency of NQO1 609 TT (homozygous) genotype was higher among AML patients with a 1.6 folds than control group, but with no statistical significance (OR 1.634, P value 0.328).The frequency of the NQO1 609CTand 609 TT genotypes combined together (mutant types) was significantly higher among AML patients with a 2.4- fold increased risk when compared with the controls (OR 2.353, Pvalue 0.007). We observed a statistically significant reduction in the mean WBCs count in patients with mutant genotypes than in wild type patients (p value 0.003), but platelet count, Hb level , and RBCs count were not significantly. In conclusion, our results indicate that NQO1 C609T mutant genotypes, with low enzymatic activity, are associated with increased risk of AML.

Key words: Acute myeloid leukaemia, NQO1 polymorphism, Sudan.