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

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

Maria Luisa Manca Bitti  1 , Patrizia Saccucci, Francesca Capasso, Simona Piccinini, Federica Angelini, Novella Rapini, Marta Porcari, Susanna Arcano, Arianna Petrelli, Elisabetta Del Duca, Egidio Bottini, Fulvia Gloria-Bottini
Affiliations

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

Maria Luisa Manca Bitti et al. J Pediatr Endocrinol Metab. 2011.

Abstract

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.

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