Investigation of MDM2 Gene Promoter Polymorphism (SNP309) in Patients with Acute Myeloid Leukemia in Khuzestan Province

Acute myeloid disease is a genetic disorder resulting from a change in the natural mechanisms of the blood precursor cells such as proliferation and differentiation. Mouse Double Minute 2 (MDM2) is an oncoprotein with E3 ubiquitin ligase activity that acts as a potent negative regulator for P53. The most well-known MDM2 gene polymorphism is SNP309 polymorphism. Substitution of G nucleotide instead of the T at 309 position increases the expression level of the MDM2 gene. Increasing the MDM2 level decrease the activity of p53 which can lead to cancer.
Subjects and This study was performed on 91 AML blood samples and 115 control blood samples in Khuzestan province. Different genotypes of 309 position of MDM2 genes were determined using PCR-RFLP and Sequeing method.
The results show that there is statistically significant association between MDM2 SNP309 polymorphism and AML.
In this study the frequency of TT, TG, and GG genotypes was 15%, 41% and 43% in AML group and 62%, 22% and 14% in control group respectively. The genotypic distribution of this polymorphism may be strongly associated with AML.