The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population

A. Chiocchetti, E. Orilieri, G. Cappellano, N. Barizzone, S. D'Alfonso, G. D'Annunzio, R. Lorini, R. Ravazzolo, F. Cadario, M. Martinetti, V. Calcaterra, F. Cerutti, G. Bruno, D. Larizza, Umberto Dianzani

Research output: Contribution to journalArticlepeer-review


Secreted phosphoprotein 1, also known as Osteopontin (Opn), is a proinflammatory cytokine involved in the TH1 response and is highly expressed in the islets and pancreatic lymph nodes of non-obese diabetic mice before the onset of diabetes. In humans, typing of the +1239A/C single nucleotide polymorphism (SNP) in the 3'UTR of the Opn gene (SPP1) showed that +1239C carriers displayed higher Opn serum levels than +1239A homozygotes and a higher risk of developing autoimmune/lymphoproliferative syndrome, multiple sclerosis, and systemic lupus erythematosus. The aim of this work is to evaluate whether +1239A/C is also associated with type 1 diabetes mellitus (T1DM). We typed +1239A/C in an initial cohort of 184 T1DM patients and 361 controls, and confirmed our data in a second cohort of 513 patients and 857 controls. In both cohorts, +1239C carriers displayed a significantly higher risk of T1DM than +1239A homozygotes (combined cohorts: OR=1.63,95%CI: 1.34-1.97). Clinical analysis did not detect any differences between patients carrying or not +1239C in terms of gender distribution and age at T1DM diagnosis. These data suggest that SPP1 variants marked by +1239C are associated with T1DM development in the Italian population. The predisposing effect may depend on its effect on Opn levels.

Original languageEnglish
Pages (from-to)263-269
Number of pages7
JournalInternational Journal of Immunopathology and Pharmacology
Issue number1
Publication statusPublished - Jan 2010


  • Genetic susceptibility
  • Osteopontin
  • Single nucleotide polymorphism
  • Type 1 diabetes mellitus

ASJC Scopus subject areas

  • Pharmacology
  • Immunology
  • Immunology and Allergy


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