A CA repeat polymorphism of the IFN-γ gene is associated with susceptibility to type 1 diabetes

Mohamed Jahromi, Ann Millward, Andrew Demaine

Research output: Contribution to journalArticlepeer-review

61 Citations (Scopus)


Recent studies have shown that loci outside the HLA region are involved in determining susceptibility to type 1 diabetes. Polymorphisms in the coding and noncoding regions of the genes encoding cytokines may be involved in modulating the immune response to self and nonself antigens. There is increasing evidence that an imbalance and disruption of the Th1 and Th2 T cell subsets play a key role in the development of experimental and clinical type 1 diabetes. The aim of this study was to investigate the frequency of a CA dinucleotide repeat polymorphism in the interferon-γ (IFN-γ) gene (IFNG) and a C(-590)T polymorphism of the interleukin-4 (IL-4) gene in 236 Caucasoid patients with type 1 diabetes. There was a highly significant increase in the 3/3 IFNG genotype in the patients compared with normal healthy controls (34.3% vs. 13.5%, p < 0.0001) as well as a significant increase in allele 3 of the IFNG locus in the patients compared with controls (51.9% vs. 31.7%, p < 0.00001). In contrast, no significant differences were found in the frequency of the C(-590)T IL-4 polymorphism between patients and controls. These results suggest that polymorphisms of the IFNG gene may modify the function of this proinflammatory mediator and the response to pancreatic islet β cells.

Original languageEnglish
Pages (from-to)187-190
Number of pages4
JournalJournal of Interferon and Cytokine Research
Issue number2
Publication statusPublished - 11 Mar 2000


Dive into the research topics of 'A CA repeat polymorphism of the IFN-γ gene is associated with susceptibility to type 1 diabetes'. Together they form a unique fingerprint.

Cite this