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IL-23R gene confers susceptibility to Behcet's disease in a Chinese Han population

Zhengxuan Jiang1, Peizeng Yang, Shengping Hou

  • 1The First Affiliated Hospital, Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing 400016, PR China.

Annals of the Rheumatic Diseases
|April 9, 2010
PubMed

Insights

Interleukin-23 receptor (IL-23R) gene variations, specifically rs17375018 and rs11209032, are linked to Behcet's disease (BD) susceptibility in Chinese Han individuals. The AGCG haplotype may offer protection against BD.

Area of Science:

  • Genetics and immunology research.
  • Focus on autoimmune disease pathogenesis.

Background:

  • Interleukin-23 (IL-23) plays a role in Behcet's disease (BD) pathogenesis by increasing IL-17 production.
  • Investigating genetic factors influencing BD susceptibility is crucial.

Purpose of the Study:

  • To investigate the association between Interleukin-23 receptor (IL-23R) gene polymorphisms and susceptibility to Behcet's disease (BD) in a Chinese Han population.
  • To identify specific single-nucleotide polymorphisms (SNPs) and haplotypes of IL-23R associated with BD risk.

Main Methods:

  • Genotyping of four single-nucleotide polymorphisms (SNPs): rs7517847, rs11209032, rs1343151, and rs17375018.
  • Utilized PCR restriction fragment length polymorphism assay.
  • Compared genotypes and allele frequencies between 338 BD patients and 407 healthy controls.

Main Results:

  • Significantly higher prevalence of homozygous rs17375018 GG genotype and G allele in BD patients (p(c)<0.001).
  • Increased frequencies of rs11209032 AA genotype and A allele observed in BD patients (p(c)≤0.024).
  • Significantly decreased frequency of the AGCG haplotype found in BD patients (p(c)=0.0016).

Conclusions:

  • The study identifies a strong association between IL-23R SNP rs17375018 and Behcet's disease (BD).
  • rs11209032 AA and rs17375018 GG genotypes of IL-23R are suggested as predisposing factors for BD.
  • The AGCG haplotype may confer a protective effect against Behcet's disease.
Abstract

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