title: Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner.
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.
authors.affiliation: Pediatric Diabetes Unit, Tor Vergata University Hospital, Rome, Italy.
authors.forename: Maria Luisa Manca
authors.initials: ML
authors.lastname: Bitti
authors.forename: Patrizia
authors.initials: P
authors.lastname: Saccucci
authors.forename: Francesca
authors.initials: F
authors.lastname: Capasso
authors.forename: Simona
authors.initials: S
authors.lastname: Piccinini
authors.forename: Federica
authors.initials: F
authors.lastname: Angelini
authors.forename: Novella
authors.initials: N
authors.lastname: Rapini
authors.forename: Marta
authors.initials: M
authors.lastname: Porcari
authors.forename: Susanna
authors.initials: S
authors.lastname: Arcano
authors.forename: Arianna
authors.initials: A
authors.lastname: Petrelli
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Del Duca
authors.forename: Egidio
authors.initials: E
authors.lastname: Bottini
authors.forename: Fulvia
authors.initials: F
authors.lastname: Gloria-Bottini
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003062:Codon; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005091:Exons; D005260:Female; D016158:Genes, p53; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017678:Sex Distribution
chemical_list: D003062:Codon