Document Type: Research Articles
Department of Biology, Ashkezar Branch, Islamic Azad University, Yazd, Iran.
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: Genetic factors play a substantial role in acute myeloid leukemia (AML) etiology. Overexpression of
the mouse double minute 2 (MDM2) gene has been explored in many tumors. However, the role of MDM2 -309T>G
(rs2279744) polymorphism in AML remains unclear. We have performed this study to examine the association of MDM2
-309T>G with AML in an Iranian population. Methods: We have examined the association of N MDM2 -309T>G
polymorphism in 73 cases diagnosed with AML and 80 healthy controls by tetra-primer amplification refractory mutation
system (ARMS) PCR assay. Odds ratios (OR) and 95% confidence intervals (CI) were calculated on the risk genotypes
and alleles. Results: The TT, GG and GG genotypes of MDM2 -309T>G polymorphism in patients were 32.9%, 23.2%
and 43.9%, while in controls were 86.2%, 7.5% and 6.3%, respectively. Moreover, Frequency of mutant allele (G)
was 55.6% in cases with AML and 10.0% in controls. The mutant homozygote genotype (GG) was associated with an
increased susceptibility to AML (OR 1.471; 95% CI: 1.062-1.844; p=0.004). Conclusion: Our results showed that the
MDM2 -309T>G polymorphism was significantly associated with increased risk of AML in the Iranian population.
Thus, the MDM2 -309T>G polymorphism might be useful genetic susceptibility factors in the pathogenesis of AML.