Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner

J Pediatr Endocrinol Metab. 2011;24(7-8):437-9. doi: 10.1515/jpem.2011.058.


In type 1 diabetes mellitus (T1D) p53 pathways are up-regulated and there is an increased susceptibility to apoptosis. The hypothesis is that p53 codon 72 polymorphism could be associated with T1D. A total of 286 children with T1D and a control sample of 730 subjects were studied. p53 codon 72 polymorphism was analysed by polymerase chain reaction. A large increase of p53 *Arg/*Arg was observed in T1D patients with age at onset < 6 years. A strong linear correlation between *Arg/*Arg genotype and age at onset was observed in females. The involvement of the *Arg/*Arg genotype in apoptosis suggests that during the autoimmune process leading to T1D, genetic factors that favor apoptosis may contribute to the onset of overt disease.

MeSH terms

  • Adolescent
  • Age of Onset
  • Child
  • Child, Preschool
  • Codon*
  • Diabetes Mellitus, Type 1 / genetics*
  • Exons
  • Female
  • Genes, p53*
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Italy
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Sex Distribution


  • Codon