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Licensed Unlicensed Requires Authentication Published by De Gruyter June 21, 2011

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

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

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.


Corresponding author: Fulvia Gloria-Bottini, Department of Biopathology and Imaging Diagnostics, University of Tor Vergata, Via Montpellier, 1, 00133 Rome, Italy Phone: +39-6-72596030, Fax: +39-6-72596028

Published Online: 2011-06-21
Published in Print: 2011-08-01

©2011 by Walter de Gruyter Berlin Boston

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