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Genetic polymorphisms of cell adhesion molecules in Behcet's disease in a Chinese Han population

Minming Zheng1, Lijun Zhang1, Hongsong Yu1

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

Scientific Reports
|April 26, 2016
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in CD6 and CD11c genes are associated with Behçet's disease (BD) susceptibility in the Chinese Han population. These findings highlight the role of these cell adhesion molecules in BD pathogenesis.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Cell adhesion molecules (CAMs) play a crucial role in immune responses and are implicated in immune-mediated diseases.
  • Behçet's disease (BD) is a complex immune-mediated disorder with a significant genetic component.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in CAMs and the susceptibility to Behçet's disease (BD).
  • To explore the functional impact of identified SNPs on gene expression and cytokine production.

Main Methods:

  • A two-stage genetic association study involving 1149 BD patients and 2107 controls from the Chinese Han population.
  • Genotyping of 43 SNPs using MassARRAY, PCR-RFLP, and TaqMan assays.
  • Analysis of CD6 and CD11c gene expression via real-time PCR and cytokine levels (TNF-α, IL-1β) using ELISA.

Main Results:

  • Significant associations were found between specific genotypes/alleles of CD6 (rs11230563) and CD11c (rs2929) and BD susceptibility.
  • BD patients exhibited distinct genotype frequencies for CD6 and CD11c SNPs compared to healthy controls.
  • GG genotype carriers of CD11c rs2929 showed increased CD11c expression and higher production of TNF-α and IL-1β.

Conclusions:

  • CD6 and CD11c gene polymorphisms are associated with an increased risk of developing Behçet's disease in the Chinese Han population.
  • These findings suggest that CD6 and CD11c are involved in the pathogenesis of BD.
  • The study provides genetic evidence supporting the role of CAMs in BD susceptibility.

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