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.
MANCA BITTI, M.l., Saccucci, P., Capasso, F., Piccinini, S., Angelini, F., Rapini, N., et al. (2011). Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 24(7-8), 437-439.
Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner
MANCA BITTI, MARIA LUISA;SACCUCCI, PATRIZIA;ANGELINI, FEDERICA;RAPINI, NOVELLA;BOTTINI, EGIDIO;GLORIA, FULVIA
2011-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.