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

Background: 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.

Objective: The current study aimed to define the roles of MDM2 and p53 genetic polymorphisms with the risk of AML.

Methodology: 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.

Results: 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.