MDM2 SNP309 and p53 codon 72 genetic polymorphisms and risk of AML: an Egyptian study

Acute myeloid leukemia (AML) is a heterogeneous disease with numerous genetic abnormalities corresponding to a variety of subtypes. p53 is involved in multiple cellular pathways including apoptosis, transcriptional control, and cell cycle regulation. A single nucleotide polymorphism (SNP) at codon 72 of the p53 gene is associated with the risk for development of various neoplasms. MDM2 SNP309 is a single nucleotide T to G polymorphism located in the MDM2 gene promoter, which enhances the expression of MDM2 protein and thereby leads to attenuation of the p53 stress response. The current study aimed to define the roles of MDM2 and p53 genetic polymorphisms with the risk of AML. Genotyping for MDM2 was done by AS-PCR technique while p53 codon 72 genotyping was done by PCR- RFLP for 50 patients and 50 controls. The study did not detect any significant differences regarding MDM2 or p53 polymorphisms in AML cases, as compared to controls. A borderline significance was found between cases and controls regarding combined MDM2 T/G and p53 genotyping. MDM2 variant genotype was significantly associated with a younger age group and lower Hb level, while the P53 variant was significantly associated with less frequent CD117 expression.