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MDM2 T309G has a synergistic effect with P21 ser31arg single nucleotide polymorphisms on the risk of acute myeloid

Gamal T Ebid1, Iman A Sedhom, Mosaad M El-Gammal

  • 1Department, National Cancer Institute, Cairo University. gamalthabet@gmail.com

Asian Pacific Journal of Cancer Prevention : APJCP
|November 22, 2012
PubMed
Abstract

Insights

Single nucleotide polymorphisms in the P53 pathway, specifically in P21, are linked to increased acute myeloid leukemia (AML) risk. Combined P21 and MDM2 polymorphisms show a synergistic effect, suggesting a role in AML pathogenesis.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The P53 tumor suppressor gene is crucial for preventing genome mutation propagation.
  • P53 regulates apoptosis and growth arrest via target genes like P21, but is negatively regulated by MDM2.
  • Single nucleotide polymorphisms (SNPs) in P53, P21, and MDM2 are linked to increased cancer risk.

Purpose of the Study:

  • To investigate the prevalence of SNPs in the P53 pathway (P53, P21, MDM2) in acute myeloid leukemia (AML) patients.
  • To compare SNP prevalence between AML patients and healthy controls.
  • To assess the impact of these SNPs on AML risk.

Main Methods:

  • Genotyping of SNPs in P53 (Arg72Pro), P21 (Ser31Arg), and MDM2 (309G/T) was performed.
  • Patient and control groups were analyzed for allele and genotype frequencies.
  • Statistical analysis, including odds ratios (OR) and confidence intervals (CI), was used to determine risk association.

Main Results:

  • The P21 Ser31Arg heterozygous polymorphism significantly increases AML risk (OR=2.946, P=0.017).
  • The MDM2 309G allele synergistically increased AML risk when combined with P21 Ser/Arg polymorphism (OR=6.807, P=0.003).
  • The MDM2 309T allele diminished the risk associated with the P21 polymorphic allele (P=0.71), and P53 Arg72Pro showed no significant AML risk association.

Conclusions:

  • SNPs in the P53 pathway, particularly P21 Ser31Arg, may act as genetic susceptibility factors in AML.
  • Combined P21 and MDM2 polymorphisms present a significant risk factor for AML development.
  • These findings highlight the importance of the P53 pathway in AML pathogenesis.

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