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Updated: Feb 22, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-2, Interferon-gamma Gene Polymorphisms in Recurrent Aphthous Stomatitis.
Shamsolmoulouk Najafi1, Hila Yousefi2,3, Mahsa Mohammadzadeh1,4
1Department of Oral Medicine, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
Certain single nucleotide polymorphisms in IL-2 and IFN-γ genes are associated with recurrent aphthous stomatitis (RAS) risk. These gene variations may influence susceptibility to this common oral inflammatory condition.
Area of Science:
- Immunogenetics
- Oral Medicine
- Molecular Biology
Background:
- Recurrent aphthous stomatitis (RAS) is a prevalent oral ulcerative disease with unclear origins.
- Elevated levels of Interleukin-2 (IL-2) and Interferon-gamma (IFN-γ), cytokines produced by Th1 cells, are observed in RAS patients.
- Single nucleotide polymorphisms (SNPs) in IL-2 and IFN-γ genes can potentially modify cytokine production.
Purpose of the Study:
- To investigate the allele and genotype frequencies of IL-2 and IFN-γ genes in patients with minor RAS (MiRAS).
- To determine if specific SNPs in IL-2 and IFN-γ are associated with an increased predisposition to MiRAS.
Main Methods:
- Genomic DNA from 64 Iranian MiRAS patients and a control group was analyzed.
- Polymerase Chain Reaction-Sequence Specific Primers (PCR-SSP) was used to genotype specific SNPs in the IL-2 gene (G -330 T, G +166 T) and IFN-γ gene (UTR5644 A/T).
- Allele and genotype frequencies were statistically compared between the MiRAS patient group and the control group.
Main Results:
- Significant associations were found for IL-2 gene polymorphisms: IL-2 +166 G allele and GG genotype were lower in patients, while the T allele and GT genotype were higher. IL-2 -330 GT genotype was higher, and TT genotype was lower in patients.
- No significant differences in IFN-γ UTR5644 allele frequencies were observed, but the AT genotype was significantly more common in MiRAS patients.
- These findings suggest a link between specific IL-2 and IFN-γ SNPs and RAS susceptibility.
Conclusions:
- Certain SNPs in the IL-2 and IFN-γ genes appear to be associated with an individual's predisposition to developing recurrent aphthous stomatitis.
- Further research across diverse ethnic populations is necessary to validate these genetic associations with RAS.
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