P53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

Maria Carmela Epistolato, Vittoria Disciglio, Gabriella Livide, Paola Berchialla, Maria Antonietta Mencarelli, Annabella Marozza, Mariangela Amenduni, Theodora Hadjistilianou, Sonia De Francesco, Antonio Acquaviva, Paolo Toti, Francesco Cetta, Francesca Ariani, Mario De Marchi, Alessandra Renieri, Daniela Giachino

Research output: Contribution to journalArticlepeer-review


The tumor suppressor p53 and its negative regulator MDM2 have crucial roles in a variety of cellular functions such as the control of the cell cycle, senescence, genome stability and apoptosis, and are frequently deregulated in carcinogenesis. Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. Their possible role in retinoblastoma has recently been addressed by Castéra et al, who however only studied the MDM2 309SNP. Here, for the first time, we analyzed both single nucleotide polymorphisms (SNPs) in a case-control study of 111 Italian hereditary retinoblastoma patients. We found a significant association of the p53 Pro/Pro genotype with the disease (odds ratio=3.58, P=0.002). The MDM2 309SNP showed a weak negative association of allele G that deserves further investigation. These findings further support the hypothesis that genetic variability of the p53 pathway contributes to the individual susceptibility to retinoblastoma, as shown for Li-Fraumeni syndrome and a variety of non-hereditary cancers.

Original languageEnglish
Pages (from-to)685-686
Number of pages2
JournalJournal of Human Genetics
Issue number9
Publication statusPublished - Sep 2011


  • hereditary retinoblastoma
  • MDM2
  • p53
  • single nucleotide polymorphisms

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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