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MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk

Stian Knappskog1, Liv B Gansmo, Pål Romundstad

  • 1Section of Oncology, Institute of Medicine, University of Bergen, Bergen, Norway. stian.knappskog@med.uib.no

Plos One
|May 5, 2012
PubMed

Insights

This study investigated a new MDM2 gene variant (SNP344A) and found it does not impact MDM2 gene expression or cancer risk in Caucasian populations. The findings suggest this specific polymorphism is not a significant factor in tumorigenesis.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The MDM2 proto-oncogene is crucial for cell growth and apoptosis, with its gene locus often amplified in sarcomas.
  • MDM2 promoter P2 polymorphisms, including SNP309T>G and SNP285G>C, influence cancer risk by modulating Sp1 transcription factor binding and affecting MDM2 expression.

Purpose of the Study:

  • To investigate the functional effects of a third MDM2 promoter P2 polymorphism, SNP344T>A (rs1196333), on MDM2 transcription and cancer risk.
  • To determine if SNP344A influences the binding of transcription factors TFAP2A, SPIB, and AP1.
  • To assess the frequency of SNP344A in healthy Caucasians and patients with ovarian, breast, endometrial, and prostate cancer.

Main Methods:

  • In silico analysis to predict transcription factor binding.
  • Assessment of MDM2 expression levels in relation to SNP344 genotype.
  • Population-based frequency analysis of SNP344A in healthy individuals and cancer patients.

Main Results:

  • In silico analysis suggested SNP344A might modulate TFAP2A, SPIB, and AP1 binding.
  • No significant effect of SNP344 status on MDM2 expression levels was observed.
  • The frequency of SNP344A did not significantly differ between healthy Caucasians and patients with ovarian, breast, endometrial, or prostate cancer.

Conclusions:

  • The MDM2 polymorphism SNP344A does not appear to affect MDM2 transcription.
  • This specific polymorphism is not associated with altered cancer risk in the studied Caucasian populations.
  • Fine-tuning of MDM2 expression through SNP344A is unlikely to play a significant role in tumorigenesis.

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