Interleukin-4 and Interleukin-4 Receptor Alpha Gene Polymorphisms in Recurrent Aphthous Stomatitis

Immunol Invest. 2018 Oct;47(7):680-688. doi: 10.1080/08820139.2018.1480033. Epub 2018 Jul 9.

Abstract

Background: Recurrent aphthous stomatitis (RAS) is a common oral condition with a major impact on the quality of life. The condition is thought to be due to the overexpression of T helper-1(Th1)-related cytokines. Since interleukin-4 (IL-4) and its receptor (IL-4Rα) are antagonistic to Th-1 pathways, polymorphisms in their genes may also be involved in the pathogenesis of aphthous stomatitis.

Methods: Sixty-four patients diagnosed with minor RAS and 141 (age- and sex-matched) healthy controls were assessed for 3 single-nucleotide polymorphisms (SNPs) within the promoter region of the IL-4 gene (-1098G/T, -590C/T, and -33C/T), and 1 SNP in IL-4Rα gene (+1902 A/G).

Results: No significant differences were detected between the patient and the control group regarding IL-4 allele frequencies. However, the patient group demonstrated a higher frequency of IL-4 -590 CC genotype and a lower rate of IL-4 -590 TC genotype. The TCT, GTT, GCT, and GTC haplotypes of the IL-4 gene (-1098, -590, -33) were significantly more frequent in the patients and the GCC, and TTT haplotypes were more common in healthy controls. No significant differences were found in IL-4Rα gene polymorphism between the 2 groups.

Conclusions: Certain polymorphisms of IL4 gene could predispose individuals to RAS.

Keywords: Canker sores; interleukin-4; interleukin-4 receptor alpha; recurrent aphthous stomatitis; single-nucleotide polymorphisms.

MeSH terms

  • Alleles
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype*
  • Humans
  • Interleukin-4 / genetics*
  • Interleukin-4 Receptor alpha Subunit / genetics*
  • Iran
  • Male
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic / genetics*
  • Stomatitis, Aphthous / genetics*
  • Stomatitis, Aphthous / immunology
  • Th1-Th2 Balance

Substances

  • IL4 protein, human
  • IL4R protein, human
  • Interleukin-4 Receptor alpha Subunit
  • Interleukin-4

Supplementary concepts

  • Sutton disease 2