Association of alleles at polymorphic sites in the osteopontin encoding gene in young type 1 diabetic patients

Renato Marciano, Giuseppe D'Annunzio, Nicola Minuto, Lorenzo Pasquali, Andrea Santamaria, Marco Di Duca, Roberto Ravazzolo, Renata Lorini

Research output: Contribution to journalArticlepeer-review

Abstract

The Osteopontin (OPN) encoding gene, SPP1, can be considered as a candidate for genetic susceptibility to type 1 diabetes (T1D) because of its known function in immune response and inflammation. This work aimed to evaluate the role of SPP1 gene in susceptibility to T1D. Patients (238: 130 male, 108 female) and unaffected adult control individuals (137: 68 males and 69 females) have been genotyped for three variants in the SPP1 gene: - 156 (G/GG) and - 66 (T/G) in the promoter and a biallelic ins/del variant (TG/TGTG) at + 245 in the first intron. The G allele at the - 66 SNP had significantly higher frequency in controls than T1D patients. Interestingly, case-control comparison in males showed no significant association, whereas the association was confirmed in females. These results suggest that SPP1 can play a role as susceptibility gene, possibly by a sex-specific mechanism acting in the autoimmune process.

Original languageEnglish
Pages (from-to)84-91
Number of pages8
JournalClinical Immunology
Volume131
Issue number1
DOIs
Publication statusPublished - Apr 2009

Keywords

  • Autoimmunity
  • Osteopontin
  • Polymorphisms
  • Type 1 diabetes

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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