DNMT3A-448A>G nucleotide polymorphism and susceptibility to acute myeloid leukemia in a cohort of Egyptian patients.

Background DNA-methyltransferase 3 A (DNMT3A) plays an important role in DNA methylation. Its mutation is the commonest mutated epigenetic regulator in acute myeloid leukemia (AML). However, the relation between DNMT3 polymorphism and AML risk in Egyptian patients is still unknown. Objectives To detect the frequency of DNMT3A-448A>G (rs 1550117) single nucleotide polymorphism in a cohort of adult Egyptian patients with AML and normal controls matched by age, sex, and ethnicity and to assess its effect on the susceptibility of AML. Patients and methods PCR-restriction fragment length polymorphism was the genotyping method used to assess DNMT3A polymorphism in the present case–control study. Results The frequency of the wild (GG), mutant heterozygous (AG), and mutant homozygous (AA) genotypes among patients and controls were 47.90 versus 47.70%, 46.50 versus49.20%, and 5.60 versus 3.10%, respectively (P=0.763, 0.505, and 0.462, respectively), whereas the frequency of A allele was 28.87 versus 27.69% P=0.829. The patients with DNMT3A mutant types (AG, AA, and carrier of the variant Allele of the DNMT3A) were not associated with the risk of AML (odds ratio: 0.548, 0.516, and 0.934; 95% confidence interval: 0.094–3.206, 0.088–3.014, and 0.556-1.60, respectively). Conclusion DNMT3A-448A>G (rs 1550117) polymorphism conferred no risk to AML in our studied Egyptian patients. [ABSTRACT FROM AUTHOR]